Canonical Allele Identifier: CA394883472

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1900243
• ClinVar RCV Id: RCV002576420
• dbSNP Id: rs1367035787
• gnomAD v2: 16-16244012-G-A
• gnomAD v3: 16-16150155-G-A
• gnomAD v4: 16-16150155-G-A
• MyVariant Identifiers: chr16:g.16244012G>A (hg19) ; chr16:g.16150155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150155G>A , CM000678.2:g.16150155G>A	GRCh38
NC_000016.9:g.16244012G>A , CM000678.1:g.16244012G>A	GRCh37
NC_000016.8:g.16151513G>A	NCBI36
NG_007558.2:g.78317C>T
NG_007558.3:g.78463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*662C>T	ENSP00000483331.2:n.*662C>T
ENST00000205557.12:c.4490C>T MANE Select	ENSP00000205557.7:p.Ala1497Val
ENST00000640696.1:c.1304C>T	ENSP00000492197.1:p.Ala435Val
ENST00000205557.11:c.4490C>T	ENSP00000205557.7:p.Ala1497Val
ENST00000456970.6:c.4115C>T	ENSP00000405002.2:n.4115C>T
ENST00000576204.5:n.1353C>T
ENST00000622290.4:c.*1699C>T	ENSP00000483331.1:n.*1699C>T
NM_001171.5:c.4490C>T	NP_001162.4:p.Ala1497Val
XM_011522479.1:c.4457C>T	XP_011520781.1:p.Ala1486Val
XM_011522480.1:c.4148C>T	XP_011520782.1:p.Ala1383Val
XM_011522481.1:c.4148C>T	XP_011520783.1:p.Ala1383Val
XR_933134.1:n.538+5865G>A
NM_001351800.1:c.4148C>T	NP_001338729.1:p.Ala1383Val
NR_147784.1:n.4152C>T
XM_011522479.2:c.4457C>T	XP_011520781.1:p.Ala1486Val
XM_011522481.3:c.4148C>T	XP_011520783.1:p.Ala1383Val
XM_017023212.1:c.4322C>T	XP_016878701.1:p.Ala1441Val
XM_024450261.1:c.4526C>T	XP_024306029.1:p.Ala1509Val
NM_001171.6:c.4490C>T MANE Select	NP_001162.5:p.Ala1497Val