Canonical Allele Identifier: CA7925251

Gene: ABCC6

Linked Data

• dbSNP Id: rs761687550
• ExAC: 16:16244614 C / A
• gnomAD v2: 16-16244614-C-A
• gnomAD v4: 16-16150757-C-A
• MyVariant Identifiers: chr16:g.16244614C>A (hg19) ; chr16:g.16150757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150757C>A , CM000678.2:g.16150757C>A	GRCh38
NC_000016.9:g.16244614C>A , CM000678.1:g.16244614C>A	GRCh37
NC_000016.8:g.16152115C>A	NCBI36
NG_007558.2:g.77715G>T
NG_007558.3:g.77861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*396G>T	ENSP00000483331.2:n.*396G>T
ENST00000205557.12:c.4224G>T MANE Select	ENSP00000205557.7:p.Gln1408His
ENST00000640696.1:c.1038G>T	ENSP00000492197.1:p.Gln346His
ENST00000205557.11:c.4224G>T	ENSP00000205557.7:p.Gln1408His
ENST00000456970.6:c.3849G>T	ENSP00000405002.2:n.3849G>T
ENST00000576204.5:n.1087G>T
ENST00000622290.4:c.*1433G>T	ENSP00000483331.1:n.*1433G>T
NM_001171.5:c.4224G>T	NP_001162.4:p.Gln1408His
XM_011522479.1:c.4191G>T	XP_011520781.1:p.Gln1397His
XM_011522480.1:c.3882G>T	XP_011520782.1:p.Gln1294His
XM_011522481.1:c.3882G>T	XP_011520783.1:p.Gln1294His
XR_933134.1:n.538+6467C>A
NM_001351800.1:c.3882G>T	NP_001338729.1:p.Gln1294His
NR_147784.1:n.3886G>T
XM_011522479.2:c.4191G>T	XP_011520781.1:p.Gln1397His
XM_011522481.3:c.3882G>T	XP_011520783.1:p.Gln1294His
XM_017023212.1:c.4056G>T	XP_016878701.1:p.Gln1352His
XM_024450261.1:c.4260G>T	XP_024306029.1:p.Gln1420His
NM_001171.6:c.4224G>T MANE Select	NP_001162.5:p.Gln1408His