Canonical Allele Identifier: CA7925583

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1464491
• ClinVar RCV Id: RCV001975469 ; RCV002484830
• dbSNP Id: rs145553069
• ExAC: 16:16256925 G / A
• gnomAD v2: 16-16256925-G-A
• gnomAD v3: 16-16163068-G-A
• gnomAD v4: 16-16163068-G-A
• MyVariant Identifiers: chr16:g.16256925G>A (hg19) ; chr16:g.16163068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163068G>A , CM000678.2:g.16163068G>A	GRCh38
NC_000016.9:g.16256925G>A , CM000678.1:g.16256925G>A	GRCh37
NC_000016.8:g.16164426G>A	NCBI36
NG_007558.2:g.65404C>T
NG_007558.3:g.65550C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3431C>T	ENSP00000483331.2:p.Ala1144Val
ENST00000205557.12:c.3431C>T MANE Select	ENSP00000205557.7:p.Ala1144Val
ENST00000640696.1:c.321-1504C>T	ENSP00000492197.1:n.321-1504C>T
ENST00000205557.11:c.3431C>T	ENSP00000205557.7:p.Ala1144Val
ENST00000456970.6:c.3132-1504C>T	ENSP00000405002.2:n.3132-1504C>T
ENST00000622290.4:c.*640C>T	ENSP00000483331.1:n.*640C>T
NM_001171.5:c.3431C>T	NP_001162.4:p.Ala1144Val
XM_011522479.1:c.3398C>T	XP_011520781.1:p.Ala1133Val
XM_011522480.1:c.3089C>T	XP_011520782.1:p.Ala1030Val
XM_011522481.1:c.3089C>T	XP_011520783.1:p.Ala1030Val
XR_932836.1:n.3666C>T
XR_932837.1:n.3543-1504C>T
XR_932838.1:n.3543-1504C>T
XR_933133.1:n.407+225G>A
XR_933134.1:n.754+225G>A
NM_001351800.1:c.3089C>T	NP_001338729.1:p.Ala1030Val
NR_147784.1:n.3169-1504C>T
XM_011522479.2:c.3398C>T	XP_011520781.1:p.Ala1133Val
XM_011522481.3:c.3089C>T	XP_011520783.1:p.Ala1030Val
XM_017023212.1:c.3263C>T	XP_016878701.1:p.Ala1088Val
XM_017023214.1:c.3307-1504C>T	XP_016878703.1:n.3307-1504C>T
XM_024450261.1:c.3467C>T	XP_024306029.1:p.Ala1156Val
XR_932836.2:n.3612C>T
XR_932837.3:n.3488-1504C>T
XR_932838.3:n.3488-1504C>T
NM_001171.6:c.3431C>T MANE Select	NP_001162.5:p.Ala1144Val