Canonical Allele Identifier: CA394875709

Gene: ABCC6

Linked Data

• dbSNP Id: rs1407177358
• gnomAD v2: 16-16248807-C-G
• gnomAD v4: 16-16154950-C-G
• MyVariant Identifiers: chr16:g.16248807C>G (hg19) ; chr16:g.16154950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154950C>G , CM000678.2:g.16154950C>G	GRCh38
NC_000016.9:g.16248807C>G , CM000678.1:g.16248807C>G	GRCh37
NC_000016.8:g.16156308C>G	NCBI36
NG_007558.2:g.73522G>C
NG_007558.3:g.73668G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.827G>C
ENST00000622290.5:c.*136G>C	ENSP00000483331.2:n.*136G>C
ENST00000205557.12:c.3964G>C MANE Select	ENSP00000205557.7:p.Gly1322Arg
ENST00000640696.1:c.778G>C	ENSP00000492197.1:p.Gly260Arg
ENST00000205557.11:c.3964G>C	ENSP00000205557.7:p.Gly1322Arg
ENST00000456970.6:c.3589G>C	ENSP00000405002.2:n.3589G>C
ENST00000576204.5:n.827G>C
ENST00000622290.4:c.*1173G>C	ENSP00000483331.1:n.*1173G>C
NM_001171.5:c.3964G>C	NP_001162.4:p.Gly1322Arg
XM_011522479.1:c.3931G>C	XP_011520781.1:p.Gly1311Arg
XM_011522480.1:c.3622G>C	XP_011520782.1:p.Gly1208Arg
XM_011522481.1:c.3622G>C	XP_011520783.1:p.Gly1208Arg
XR_932836.1:n.4262G>C
XR_932837.1:n.4000G>C
XR_932838.1:n.4063G>C
XR_933134.1:n.539-4831C>G
NM_001351800.1:c.3622G>C	NP_001338729.1:p.Gly1208Arg
NR_147784.1:n.3626G>C
XM_011522479.2:c.3931G>C	XP_011520781.1:p.Gly1311Arg
XM_011522481.3:c.3622G>C	XP_011520783.1:p.Gly1208Arg
XM_017023212.1:c.3796G>C	XP_016878701.1:p.Gly1266Arg
XM_024450261.1:c.4000G>C	XP_024306029.1:p.Gly1334Arg
XR_932837.3:n.3945G>C
NM_001171.6:c.3964G>C MANE Select	NP_001162.5:p.Gly1322Arg