Canonical Allele Identifier: CA10631014

Gene: ANK1

Linked Data

• ClinVar Variation Id: 362955
• ClinVar RCV Id: RCV000354283 ; RCV001164223
• dbSNP Id: rs560472367
• gnomAD v2: 8-41511186-C-A
• gnomAD v3: 8-41653667-C-A
• gnomAD v4: 8-41653667-C-A
• MyVariant Identifiers: chr8:g.41511186C>A (hg19) ; chr8:g.41653667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41653667C>A , CM000670.2:g.41653667C>A	GRCh38
NC_000008.10:g.41511186C>A , CM000670.1:g.41511186C>A	GRCh37
NC_000008.9:g.41630343C>A	NCBI36
NG_012820.1:g.248095G>T
NG_012820.2:g.248096G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.*2060G>T	ENSP00000265709.8:n.*2060G>T
ENST00000522543.6:c.*2060G>T	ENSP00000430368.1:n.*2060G>T
ENST00000265709.13:c.*2060G>T	ENSP00000265709.8:n.*2060G>T
ENST00000289734.13:c.*2123G>T MANE Select	ENSP00000289734.8:n.*2123G>T
ENST00000289734.11:c.*2123G>T	ENSP00000289734.7:n.*2123G>T
ENST00000347528.8:c.*2060G>T	ENSP00000339620.4:n.*2060G>T
NM_000037.3:c.*2123G>T	NP_000028.3:n.*2123G>T
NM_001142445.1:c.*2060G>T	NP_001135917.1:n.*2060G>T
NM_001142446.1:c.*2060G>T	NP_001135918.1:n.*2060G>T
NM_020475.2:c.*2060G>T	NP_065208.2:n.*2060G>T
NM_020476.2:c.*2060G>T	NP_065209.2:n.*2060G>T
NM_020477.2:c.*2060G>T	NP_065210.2:n.*2060G>T
NM_020478.4:c.*2123G>T	NP_065211.2:n.*2123G>T
NM_020480.4:c.*2060G>T	NP_065213.2:n.*2060G>T
XM_005273476.3:c.*2123G>T	XP_005273533.1:n.*2123G>T
XM_011544490.1:c.*2060G>T	XP_011542792.1:n.*2060G>T
XM_011544491.1:c.*2123G>T	XP_011542793.1:n.*2123G>T
XM_011544492.1:c.*2123G>T	XP_011542794.1:n.*2123G>T
XM_011544493.1:c.*2060G>T	XP_011542795.1:n.*2060G>T
XM_011544494.1:c.*2060G>T	XP_011542796.1:n.*2060G>T
XM_011544495.1:c.*2123G>T	XP_011542797.1:n.*2123G>T
XM_011544496.1:c.*2060G>T	XP_011542798.1:n.*2060G>T
XM_011544497.1:c.*2123G>T	XP_011542799.1:n.*2123G>T
XM_011544498.1:c.*2123G>T	XP_011542800.1:n.*2123G>T
XM_011544499.1:c.*2060G>T	XP_011542801.1:n.*2060G>T
XM_011544500.1:c.*2060G>T	XP_011542802.1:n.*2060G>T
XM_011544501.1:c.*2123G>T	XP_011542803.1:n.*2123G>T
XM_011544502.1:c.*2060G>T	XP_011542804.1:n.*2060G>T
XM_011544503.1:c.*2123G>T	XP_011542805.1:n.*2123G>T
XM_011544504.1:c.*2060G>T	XP_011542806.1:n.*2060G>T
XM_011544505.1:c.*2123G>T	XP_011542807.1:n.*2123G>T
XM_005273476.4:c.*2123G>T	XP_005273533.1:n.*2123G>T
XM_011544490.3:c.*2060G>T	XP_011542792.1:n.*2060G>T
XM_011544491.3:c.*2123G>T	XP_011542793.1:n.*2123G>T
XM_011544494.3:c.*2060G>T	XP_011542796.1:n.*2060G>T
XM_011544495.3:c.*2123G>T	XP_011542797.1:n.*2123G>T
XM_011544496.3:c.*2060G>T	XP_011542798.1:n.*2060G>T
XM_011544500.2:c.*2060G>T	XP_011542802.1:n.*2060G>T
XM_011544501.2:c.*2123G>T	XP_011542803.1:n.*2123G>T
XM_011544502.2:c.*2060G>T	XP_011542804.1:n.*2060G>T
XM_011544503.3:c.*2123G>T	XP_011542805.1:n.*2123G>T
XM_011544504.2:c.*2060G>T	XP_011542806.1:n.*2060G>T
XM_011544505.2:c.*2123G>T	XP_011542807.1:n.*2123G>T
XM_017013319.2:c.*2060G>T	XP_016868808.1:n.*2060G>T
XM_017013320.2:c.*2123G>T	XP_016868809.1:n.*2123G>T
XM_017013321.1:c.*2060G>T	XP_016868810.1:n.*2060G>T
XM_017013322.1:c.*2060G>T	XP_016868811.1:n.*2060G>T
XM_017013323.1:c.*2060G>T	XP_016868812.1:n.*2060G>T
XM_017013324.1:c.*2060G>T	XP_016868813.1:n.*2060G>T
XM_017013325.1:c.*2060G>T	XP_016868814.1:n.*2060G>T
XM_017013326.1:c.*2123G>T	XP_016868815.1:n.*2123G>T
XM_017013327.2:c.*2060G>T	XP_016868816.1:n.*2060G>T
XM_017013328.2:c.*2060G>T	XP_016868817.1:n.*2060G>T
XM_017013329.1:c.*2123G>T	XP_016868818.1:n.*2123G>T
XM_024447128.1:c.*2060G>T	XP_024302896.1:n.*2060G>T
NM_000037.4:c.*2123G>T MANE Select	NP_000028.3:n.*2123G>T
NM_001142445.2:c.*2060G>T	NP_001135917.1:n.*2060G>T
NM_001142446.2:c.*2060G>T	NP_001135918.1:n.*2060G>T
NM_020475.3:c.*2060G>T	NP_065208.2:n.*2060G>T
NM_020476.3:c.*2060G>T	NP_065209.2:n.*2060G>T
NM_020477.3:c.*2060G>T	NP_065210.2:n.*2060G>T
NM_020478.5:c.*2123G>T	NP_065211.2:n.*2123G>T
NM_020480.5:c.*2060G>T	NP_065213.2:n.*2060G>T