Canonical Allele Identifier: CA7925313

Gene: ABCC6

Linked Data

• dbSNP Id: rs200834294
• ExAC: 16:16248592 C / G
• gnomAD v2: 16-16248592-C-G
• gnomAD v3: 16-16154735-C-G
• gnomAD v4: 16-16154735-C-G
• MyVariant Identifiers: chr16:g.16248592C>G (hg19) ; chr16:g.16154735C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154735C>G , CM000678.2:g.16154735C>G	GRCh38
NC_000016.9:g.16248592C>G , CM000678.1:g.16248592C>G	GRCh37
NC_000016.8:g.16156093C>G	NCBI36
NG_007558.2:g.73737G>C
NG_007558.3:g.73883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.964G>C
ENST00000622290.5:c.*273G>C	ENSP00000483331.2:n.*273G>C
ENST00000205557.12:c.4101G>C MANE Select	ENSP00000205557.7:p.Ser1367=
ENST00000640696.1:c.915G>C	ENSP00000492197.1:p.Ser305=
ENST00000205557.11:c.4101G>C	ENSP00000205557.7:p.Ser1367=
ENST00000456970.6:c.3726G>C	ENSP00000405002.2:n.3726G>C
ENST00000576204.5:n.964G>C
ENST00000622290.4:c.*1310G>C	ENSP00000483331.1:n.*1310G>C
NM_001171.5:c.4101G>C	NP_001162.4:p.Ser1367=
XM_011522479.1:c.4068G>C	XP_011520781.1:p.Ser1356=
XM_011522480.1:c.3759G>C	XP_011520782.1:p.Ser1253=
XM_011522481.1:c.3759G>C	XP_011520783.1:p.Ser1253=
XR_933134.1:n.539-5046C>G
NM_001351800.1:c.3759G>C	NP_001338729.1:p.Ser1253=
NR_147784.1:n.3763G>C
XM_011522479.2:c.4068G>C	XP_011520781.1:p.Ser1356=
XM_011522481.3:c.3759G>C	XP_011520783.1:p.Ser1253=
XM_017023212.1:c.3933G>C	XP_016878701.1:p.Ser1311=
XM_024450261.1:c.4137G>C	XP_024306029.1:p.Ser1379=
NM_001171.6:c.4101G>C MANE Select	NP_001162.5:p.Ser1367=