Canonical Allele Identifier: CA394884841

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248647G>T (hg19) ; chr16:g.16154790G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154790G>T , CM000678.2:g.16154790G>T	GRCh38
NC_000016.9:g.16248647G>T , CM000678.1:g.16248647G>T	GRCh37
NC_000016.8:g.16156148G>T	NCBI36
NG_007558.2:g.73682C>A
NG_007558.3:g.73828C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.909C>A
ENST00000622290.5:c.*218C>A	ENSP00000483331.2:n.*218C>A
ENST00000205557.12:c.4046C>A MANE Select	ENSP00000205557.7:p.Pro1349His
ENST00000640696.1:c.860C>A	ENSP00000492197.1:p.Pro287His
ENST00000205557.11:c.4046C>A	ENSP00000205557.7:p.Pro1349His
ENST00000456970.6:c.3671C>A	ENSP00000405002.2:n.3671C>A
ENST00000576204.5:n.909C>A
ENST00000622290.4:c.*1255C>A	ENSP00000483331.1:n.*1255C>A
NM_001171.5:c.4046C>A	NP_001162.4:p.Pro1349His
XM_011522479.1:c.4013C>A	XP_011520781.1:p.Pro1338His
XM_011522480.1:c.3704C>A	XP_011520782.1:p.Pro1235His
XM_011522481.1:c.3704C>A	XP_011520783.1:p.Pro1235His
XR_933134.1:n.539-4991G>T
NM_001351800.1:c.3704C>A	NP_001338729.1:p.Pro1235His
NR_147784.1:n.3708C>A
XM_011522479.2:c.4013C>A	XP_011520781.1:p.Pro1338His
XM_011522481.3:c.3704C>A	XP_011520783.1:p.Pro1235His
XM_017023212.1:c.3878C>A	XP_016878701.1:p.Pro1293His
XM_024450261.1:c.4082C>A	XP_024306029.1:p.Pro1361His
NM_001171.6:c.4046C>A MANE Select	NP_001162.5:p.Pro1349His