Canonical Allele Identifier: CA394876009

Gene: ABCC6

Linked Data

• dbSNP Id: rs1430244169
• gnomAD v2: 16-16248851-G-A
• gnomAD v4: 16-16154994-G-A
• MyVariant Identifiers: chr16:g.16248851G>A (hg19) ; chr16:g.16154994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154994G>A , CM000678.2:g.16154994G>A	GRCh38
NC_000016.9:g.16248851G>A , CM000678.1:g.16248851G>A	GRCh37
NC_000016.8:g.16156352G>A	NCBI36
NG_007558.2:g.73478C>T
NG_007558.3:g.73624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.783C>T
ENST00000622290.5:c.*92C>T	ENSP00000483331.2:n.*92C>T
ENST00000205557.12:c.3920C>T MANE Select	ENSP00000205557.7:p.Ser1307Phe
ENST00000640696.1:c.734C>T	ENSP00000492197.1:p.Ser245Phe
ENST00000205557.11:c.3920C>T	ENSP00000205557.7:p.Ser1307Phe
ENST00000456970.6:c.3545C>T	ENSP00000405002.2:n.3545C>T
ENST00000576204.5:n.783C>T
ENST00000622290.4:c.*1129C>T	ENSP00000483331.1:n.*1129C>T
NM_001171.5:c.3920C>T	NP_001162.4:p.Ser1307Phe
XM_011522479.1:c.3887C>T	XP_011520781.1:p.Ser1296Phe
XM_011522480.1:c.3578C>T	XP_011520782.1:p.Ser1193Phe
XM_011522481.1:c.3578C>T	XP_011520783.1:p.Ser1193Phe
XR_932836.1:n.4218C>T
XR_932837.1:n.3956C>T
XR_932838.1:n.4019C>T
XR_933134.1:n.539-4787G>A
NM_001351800.1:c.3578C>T	NP_001338729.1:p.Ser1193Phe
NR_147784.1:n.3582C>T
XM_011522479.2:c.3887C>T	XP_011520781.1:p.Ser1296Phe
XM_011522481.3:c.3578C>T	XP_011520783.1:p.Ser1193Phe
XM_017023212.1:c.3752C>T	XP_016878701.1:p.Ser1251Phe
XM_024450261.1:c.3956C>T	XP_024306029.1:p.Ser1319Phe
XR_932836.2:n.4164C>T
XR_932837.3:n.3901C>T
XR_932838.3:n.3964C>T
NM_001171.6:c.3920C>T MANE Select	NP_001162.5:p.Ser1307Phe