Canonical Allele Identifier: CA394883787

Gene: ABCC6

Linked Data

• dbSNP Id: rs1412814821
• gnomAD v2: 16-16244495-A-C
• gnomAD v4: 16-16150638-A-C
• MyVariant Identifiers: chr16:g.16244495A>C (hg19) ; chr16:g.16150638A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150638A>C , CM000678.2:g.16150638A>C	GRCh38
NC_000016.9:g.16244495A>C , CM000678.1:g.16244495A>C	GRCh37
NC_000016.8:g.16151996A>C	NCBI36
NG_007558.2:g.77834T>G
NG_007558.3:g.77980T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*515T>G	ENSP00000483331.2:n.*515T>G
ENST00000205557.12:c.4343T>G MANE Select	ENSP00000205557.7:p.Phe1448Cys
ENST00000640696.1:c.1157T>G	ENSP00000492197.1:p.Phe386Cys
ENST00000205557.11:c.4343T>G	ENSP00000205557.7:p.Phe1448Cys
ENST00000456970.6:c.3968T>G	ENSP00000405002.2:n.3968T>G
ENST00000576204.5:n.1206T>G
ENST00000622290.4:c.*1552T>G	ENSP00000483331.1:n.*1552T>G
NM_001171.5:c.4343T>G	NP_001162.4:p.Phe1448Cys
XM_011522479.1:c.4310T>G	XP_011520781.1:p.Phe1437Cys
XM_011522480.1:c.4001T>G	XP_011520782.1:p.Phe1334Cys
XM_011522481.1:c.4001T>G	XP_011520783.1:p.Phe1334Cys
XR_933134.1:n.538+6348A>C
NM_001351800.1:c.4001T>G	NP_001338729.1:p.Phe1334Cys
NR_147784.1:n.4005T>G
XM_011522479.2:c.4310T>G	XP_011520781.1:p.Phe1437Cys
XM_011522481.3:c.4001T>G	XP_011520783.1:p.Phe1334Cys
XM_017023212.1:c.4175T>G	XP_016878701.1:p.Phe1392Cys
XM_024450261.1:c.4379T>G	XP_024306029.1:p.Phe1460Cys
NM_001171.6:c.4343T>G MANE Select	NP_001162.5:p.Phe1448Cys