Canonical Allele Identifier: CA7925320

Gene: ABCC6

Linked Data

• dbSNP Id: rs750674262
• ExAC: 16:16248634 A / G
• gnomAD v2: 16-16248634-A-G
• gnomAD v3: 16-16154777-A-G
• gnomAD v4: 16-16154777-A-G
• MyVariant Identifiers: chr16:g.16248634A>G (hg19) ; chr16:g.16154777A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154777A>G , CM000678.2:g.16154777A>G	GRCh38
NC_000016.9:g.16248634A>G , CM000678.1:g.16248634A>G	GRCh37
NC_000016.8:g.16156135A>G	NCBI36
NG_007558.2:g.73695T>C
NG_007558.3:g.73841T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.922T>C
ENST00000622290.5:c.*231T>C	ENSP00000483331.2:n.*231T>C
ENST00000205557.12:c.4059T>C MANE Select	ENSP00000205557.7:p.Pro1353=
ENST00000640696.1:c.873T>C	ENSP00000492197.1:p.Pro291=
ENST00000205557.11:c.4059T>C	ENSP00000205557.7:p.Pro1353=
ENST00000456970.6:c.3684T>C	ENSP00000405002.2:n.3684T>C
ENST00000576204.5:n.922T>C
ENST00000622290.4:c.*1268T>C	ENSP00000483331.1:n.*1268T>C
NM_001171.5:c.4059T>C	NP_001162.4:p.Pro1353=
XM_011522479.1:c.4026T>C	XP_011520781.1:p.Pro1342=
XM_011522480.1:c.3717T>C	XP_011520782.1:p.Pro1239=
XM_011522481.1:c.3717T>C	XP_011520783.1:p.Pro1239=
XR_933134.1:n.539-5004A>G
NM_001351800.1:c.3717T>C	NP_001338729.1:p.Pro1239=
NR_147784.1:n.3721T>C
XM_011522479.2:c.4026T>C	XP_011520781.1:p.Pro1342=
XM_011522481.3:c.3717T>C	XP_011520783.1:p.Pro1239=
XM_017023212.1:c.3891T>C	XP_016878701.1:p.Pro1297=
XM_024450261.1:c.4095T>C	XP_024306029.1:p.Pro1365=
NM_001171.6:c.4059T>C MANE Select	NP_001162.5:p.Pro1353=