Canonical Allele Identifier: CA7925297

Gene: ABCC6

Linked Data

• dbSNP Id: rs766971195
• ExAC: 16:16248522 G / A
• gnomAD v2: 16-16248522-G-A
• MyVariant Identifiers: chr16:g.16248522G>A (hg19) ; chr16:g.16154665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154665G>A , CM000678.2:g.16154665G>A	GRCh38
NC_000016.9:g.16248522G>A , CM000678.1:g.16248522G>A	GRCh37
NC_000016.8:g.16156023G>A	NCBI36
NG_007558.2:g.73807C>T
NG_007558.3:g.73953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*343C>T	ENSP00000483331.2:n.*343C>T
ENST00000205557.12:c.4171C>T MANE Select	ENSP00000205557.7:p.Leu1391=
ENST00000640696.1:c.985C>T	ENSP00000492197.1:p.Leu329=
ENST00000205557.11:c.4171C>T	ENSP00000205557.7:p.Leu1391=
ENST00000456970.6:c.3796C>T	ENSP00000405002.2:n.3796C>T
ENST00000576204.5:n.1034C>T
ENST00000622290.4:c.*1380C>T	ENSP00000483331.1:n.*1380C>T
NM_001171.5:c.4171C>T	NP_001162.4:p.Leu1391=
XM_011522479.1:c.4138C>T	XP_011520781.1:p.Leu1380=
XM_011522480.1:c.3829C>T	XP_011520782.1:p.Leu1277=
XM_011522481.1:c.3829C>T	XP_011520783.1:p.Leu1277=
XR_933134.1:n.539-5116G>A
NM_001351800.1:c.3829C>T	NP_001338729.1:p.Leu1277=
NR_147784.1:n.3833C>T
XM_011522479.2:c.4138C>T	XP_011520781.1:p.Leu1380=
XM_011522481.3:c.3829C>T	XP_011520783.1:p.Leu1277=
XM_017023212.1:c.4003C>T	XP_016878701.1:p.Leu1335=
XM_024450261.1:c.4207C>T	XP_024306029.1:p.Leu1403=
NM_001171.6:c.4171C>T MANE Select	NP_001162.5:p.Leu1391=