Canonical Allele Identifier: CA394885007

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1913867
• ClinVar RCV Id: RCV002608450
• dbSNP Id: rs1342646819
• gnomAD v2: 16-16263680-G-T
• gnomAD v4: 16-16169823-G-T
• MyVariant Identifiers: chr16:g.16263680G>T (hg19) ; chr16:g.16169823G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169823G>T , CM000678.2:g.16169823G>T	GRCh38
NC_000016.9:g.16263680G>T , CM000678.1:g.16263680G>T	GRCh37
NC_000016.8:g.16171181G>T	NCBI36
NG_007558.2:g.58649C>A
NG_007558.3:g.58795C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2818C>A	ENSP00000483331.2:p.Arg940Ser
ENST00000205557.12:c.2818C>A MANE Select	ENSP00000205557.7:p.Arg940Ser
ENST00000205557.11:c.2818C>A	ENSP00000205557.7:p.Arg940Ser
ENST00000456970.6:c.2643C>A	ENSP00000405002.2:n.2643C>A
ENST00000622290.4:c.*27C>A	ENSP00000483331.1:n.*27C>A
NM_001171.5:c.2818C>A	NP_001162.4:p.Arg940Ser
XM_011522479.1:c.2785C>A	XP_011520781.1:p.Arg929Ser
XM_011522480.1:c.2476C>A	XP_011520782.1:p.Arg826Ser
XM_011522481.1:c.2476C>A	XP_011520783.1:p.Arg826Ser
XR_932836.1:n.3053C>A
XR_932837.1:n.3054C>A
XR_932838.1:n.3054C>A
NM_001351800.1:c.2476C>A	NP_001338729.1:p.Arg826Ser
NR_147784.1:n.2680C>A
XM_011522479.2:c.2785C>A	XP_011520781.1:p.Arg929Ser
XM_011522481.3:c.2476C>A	XP_011520783.1:p.Arg826Ser
XM_017023212.1:c.2650C>A	XP_016878701.1:p.Arg884Ser
XM_017023214.1:c.2818C>A	XP_016878703.1:p.Arg940Ser
XM_024450261.1:c.2854C>A	XP_024306029.1:p.Arg952Ser
XR_932836.2:n.2999C>A
XR_932837.3:n.2999C>A
XR_932838.3:n.2999C>A
NM_001171.6:c.2818C>A MANE Select	NP_001162.5:p.Arg940Ser