Canonical Allele Identifier: CA7925150

Gene: ABCC6

Linked Data

• dbSNP Id: rs63750874
• ExAC: 16:16244001 C / A
• gnomAD v2: 16-16244001-C-A
• gnomAD v3: 16-16150144-C-A
• gnomAD v4: 16-16150144-C-A
• MyVariant Identifiers: chr16:g.16244001C>A (hg19) ; chr16:g.16150144C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150144C>A , CM000678.2:g.16150144C>A	GRCh38
NC_000016.9:g.16244001C>A , CM000678.1:g.16244001C>A	GRCh37
NC_000016.8:g.16151502C>A	NCBI36
NG_007558.2:g.78328G>T
NG_007558.3:g.78474G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*673G>T	ENSP00000483331.2:n.*673G>T
ENST00000205557.12:c.4501G>T MANE Select	ENSP00000205557.7:p.Gly1501Cys
ENST00000640696.1:c.1315G>T	ENSP00000492197.1:p.Gly439Cys
ENST00000205557.11:c.4501G>T	ENSP00000205557.7:p.Gly1501Cys
ENST00000456970.6:c.4126G>T	ENSP00000405002.2:n.4126G>T
ENST00000576204.5:n.1364G>T
ENST00000622290.4:c.*1710G>T	ENSP00000483331.1:n.*1710G>T
NM_001171.5:c.4501G>T	NP_001162.4:p.Gly1501Cys
XM_011522479.1:c.4468G>T	XP_011520781.1:p.Gly1490Cys
XM_011522480.1:c.4159G>T	XP_011520782.1:p.Gly1387Cys
XM_011522481.1:c.4159G>T	XP_011520783.1:p.Gly1387Cys
XR_933134.1:n.538+5854C>A
NM_001351800.1:c.4159G>T	NP_001338729.1:p.Gly1387Cys
NR_147784.1:n.4163G>T
XM_011522479.2:c.4468G>T	XP_011520781.1:p.Gly1490Cys
XM_011522481.3:c.4159G>T	XP_011520783.1:p.Gly1387Cys
XM_017023212.1:c.4333G>T	XP_016878701.1:p.Gly1445Cys
XM_024450261.1:c.4537G>T	XP_024306029.1:p.Gly1513Cys
NM_001171.6:c.4501G>T MANE Select	NP_001162.5:p.Gly1501Cys