Canonical Allele Identifier: CA7925363

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433340
• ClinVar RCV Id: RCV000499044 ; RCV000908951
• dbSNP Id: rs57499803
• ExAC: 16:16248793 G / A
• gnomAD v2: 16-16248793-G-A
• gnomAD v3: 16-16154936-G-A
• gnomAD v4: 16-16154936-G-A
• MyVariant Identifiers: chr16:g.16248793G>A (hg19) ; chr16:g.16154936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154936G>A , CM000678.2:g.16154936G>A	GRCh38
NC_000016.9:g.16248793G>A , CM000678.1:g.16248793G>A	GRCh37
NC_000016.8:g.16156294G>A	NCBI36
NG_007558.2:g.73536C>T
NG_007558.3:g.73682C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.841C>T
ENST00000622290.5:c.*150C>T	ENSP00000483331.2:n.*150C>T
ENST00000205557.12:c.3978C>T MANE Select	ENSP00000205557.7:p.Asp1326=
ENST00000640696.1:c.792C>T	ENSP00000492197.1:p.Asp264=
ENST00000205557.11:c.3978C>T	ENSP00000205557.7:p.Asp1326=
ENST00000456970.6:c.3603C>T	ENSP00000405002.2:n.3603C>T
ENST00000576204.5:n.841C>T
ENST00000622290.4:c.*1187C>T	ENSP00000483331.1:n.*1187C>T
NM_001171.5:c.3978C>T	NP_001162.4:p.Asp1326=
XM_011522479.1:c.3945C>T	XP_011520781.1:p.Asp1315=
XM_011522480.1:c.3636C>T	XP_011520782.1:p.Asp1212=
XM_011522481.1:c.3636C>T	XP_011520783.1:p.Asp1212=
XR_933134.1:n.539-4845G>A
NM_001351800.1:c.3636C>T	NP_001338729.1:p.Asp1212=
NR_147784.1:n.3640C>T
XM_011522479.2:c.3945C>T	XP_011520781.1:p.Asp1315=
XM_011522481.3:c.3636C>T	XP_011520783.1:p.Asp1212=
XM_017023212.1:c.3810C>T	XP_016878701.1:p.Asp1270=
XM_024450261.1:c.4014C>T	XP_024306029.1:p.Asp1338=
NM_001171.6:c.3978C>T MANE Select	NP_001162.5:p.Asp1326=