Canonical Allele Identifier: CA4728201

Gene: ANK1

Linked Data

• ClinVar Variation Id: 235569
• ClinVar RCV Id: RCV000224849 ; RCV000385550 ; RCV001165099
• dbSNP Id: rs34523608
• ExAC: 8:41557033 C / T
• gnomAD v2: 8-41557033-C-T
• gnomAD v3: 8-41699515-C-T
• gnomAD v4: 8-41699515-C-T
• MyVariant Identifiers: chr8:g.41557033C>T (hg19) ; chr8:g.41699515C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.41699515C>T , CM000670.2:g.41699515C>T	GRCh38
NC_000008.10:g.41557033C>T , CM000670.1:g.41557033C>T	GRCh37
NC_000008.9:g.41676190C>T	NCBI36
NG_012820.1:g.202248G>A
NG_012820.2:g.202248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265709.14:c.2618G>A	ENSP00000265709.8:p.Arg873Gln
ENST00000705521.1:c.2714G>A	ENSP00000516136.1:p.Arg905Gln
ENST00000705522.1:c.2531G>A	ENSP00000516137.1:p.Arg844Gln
ENST00000265709.13:c.2618G>A	ENSP00000265709.8:p.Arg873Gln
ENST00000289734.13:c.2495G>A MANE Select	ENSP00000289734.8:p.Arg832Gln
ENST00000265709.12:c.2618G>A	ENSP00000265709.8:p.Arg873Gln
ENST00000289734.11:c.2495G>A	ENSP00000289734.7:p.Arg832Gln
ENST00000347528.8:c.2495G>A	ENSP00000339620.4:p.Arg832Gln
ENST00000520299.5:c.459G>A
NM_000037.3:c.2495G>A	NP_000028.3:p.Arg832Gln
NM_001142446.1:c.2618G>A	NP_001135918.1:p.Arg873Gln
NM_020475.2:c.2495G>A	NP_065208.2:p.Arg832Gln
NM_020476.2:c.2495G>A	NP_065209.2:p.Arg832Gln
NM_020477.2:c.2495G>A	NP_065210.2:p.Arg832Gln
XM_005273476.3:c.2618G>A	XP_005273533.1:p.Arg873Gln
XM_011544490.1:c.2714G>A	XP_011542792.1:p.Arg905Gln
XM_011544491.1:c.2714G>A	XP_011542793.1:p.Arg905Gln
XM_011544492.1:c.2615G>A	XP_011542794.1:p.Arg872Gln
XM_011544493.1:c.2714G>A	XP_011542795.1:p.Arg905Gln
XM_011544494.1:c.2714G>A	XP_011542796.1:p.Arg905Gln
XM_011544495.1:c.2714G>A	XP_011542797.1:p.Arg905Gln
XM_011544496.1:c.2714G>A	XP_011542798.1:p.Arg905Gln
XM_011544497.1:c.2594G>A	XP_011542799.1:p.Arg865Gln
XM_011544498.1:c.2531G>A	XP_011542800.1:p.Arg844Gln
XM_011544499.1:c.2714G>A	XP_011542801.1:p.Arg905Gln
XM_011544500.1:c.2594G>A	XP_011542802.1:p.Arg865Gln
XM_011544501.1:c.2594G>A	XP_011542803.1:p.Arg865Gln
XM_011544502.1:c.2594G>A	XP_011542804.1:p.Arg865Gln
XM_011544503.1:c.2714G>A	XP_011542805.1:p.Arg905Gln
XM_011544504.1:c.2594G>A	XP_011542806.1:p.Arg865Gln
XM_011544505.1:c.2594G>A	XP_011542807.1:p.Arg865Gln
XM_011544506.1:c.2714G>A	XP_011542808.1:p.Arg905Gln
XR_949389.1:n.2733G>A
XM_005273476.4:c.2618G>A	XP_005273533.1:p.Arg873Gln
XM_011544490.3:c.2714G>A	XP_011542792.1:p.Arg905Gln
XM_011544491.3:c.2714G>A	XP_011542793.1:p.Arg905Gln
XM_011544494.3:c.2714G>A	XP_011542796.1:p.Arg905Gln
XM_011544495.3:c.2714G>A	XP_011542797.1:p.Arg905Gln
XM_011544496.3:c.2714G>A	XP_011542798.1:p.Arg905Gln
XM_011544500.2:c.2594G>A	XP_011542802.1:p.Arg865Gln
XM_011544501.2:c.2594G>A	XP_011542803.1:p.Arg865Gln
XM_011544502.2:c.2594G>A	XP_011542804.1:p.Arg865Gln
XM_011544503.3:c.2714G>A	XP_011542805.1:p.Arg905Gln
XM_011544504.2:c.2594G>A	XP_011542806.1:p.Arg865Gln
XM_011544505.2:c.2594G>A	XP_011542807.1:p.Arg865Gln
XM_017013319.2:c.2690G>A	XP_016868808.1:p.Arg897Gln
XM_017013320.2:c.2714G>A	XP_016868809.1:p.Arg905Gln
XM_017013321.1:c.2627G>A	XP_016868810.1:p.Arg876Gln
XM_017013322.1:c.2618G>A	XP_016868811.1:p.Arg873Gln
XM_017013323.1:c.2615G>A	XP_016868812.1:p.Arg872Gln
XM_017013324.1:c.2618G>A	XP_016868813.1:p.Arg873Gln
XM_017013325.1:c.2531G>A	XP_016868814.1:p.Arg844Gln
XM_017013326.1:c.2531G>A	XP_016868815.1:p.Arg844Gln
XM_017013327.2:c.2714G>A	XP_016868816.1:p.Arg905Gln
XM_017013328.2:c.2714G>A	XP_016868817.1:p.Arg905Gln
XM_017013329.1:c.2618G>A	XP_016868818.1:p.Arg873Gln
XM_024447128.1:c.2519G>A	XP_024302896.1:p.Arg840Gln
NM_000037.4:c.2495G>A MANE Select	NP_000028.3:p.Arg832Gln
NM_001142446.2:c.2618G>A	NP_001135918.1:p.Arg873Gln
NM_020475.3:c.2495G>A	NP_065208.2:p.Arg832Gln
NM_020476.3:c.2495G>A	NP_065209.2:p.Arg832Gln
NM_020477.3:c.2495G>A	NP_065210.2:p.Arg832Gln