Canonical Allele Identifier: CA394878721

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16253363C>A (hg19) ; chr16:g.16159506C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159506C>A , CM000678.2:g.16159506C>A	GRCh38
NC_000016.9:g.16253363C>A , CM000678.1:g.16253363C>A	GRCh37
NC_000016.8:g.16160864C>A	NCBI36
NG_007558.2:g.68966G>T
NG_007558.3:g.69112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3711G>T	ENSP00000483331.2:p.Gln1237His
ENST00000205557.12:c.3711G>T MANE Select	ENSP00000205557.7:p.Gln1237His
ENST00000640696.1:c.525G>T	ENSP00000492197.1:p.Gln175His
ENST00000205557.11:c.3711G>T	ENSP00000205557.7:p.Gln1237His
ENST00000456970.6:c.3336G>T	ENSP00000405002.2:n.3336G>T
ENST00000622290.4:c.*920G>T	ENSP00000483331.1:n.*920G>T
NM_001171.5:c.3711G>T	NP_001162.4:p.Gln1237His
XM_011522479.1:c.3678G>T	XP_011520781.1:p.Gln1226His
XM_011522480.1:c.3369G>T	XP_011520782.1:p.Gln1123His
XM_011522481.1:c.3369G>T	XP_011520783.1:p.Gln1123His
XR_932836.1:n.3946G>T
XR_932837.1:n.3747G>T
XR_932838.1:n.3747G>T
XR_933134.1:n.539-275C>A
NM_001351800.1:c.3369G>T	NP_001338729.1:p.Gln1123His
NR_147784.1:n.3373G>T
XM_011522479.2:c.3678G>T	XP_011520781.1:p.Gln1226His
XM_011522481.3:c.3369G>T	XP_011520783.1:p.Gln1123His
XM_017023212.1:c.3543G>T	XP_016878701.1:p.Gln1181His
XM_024450261.1:c.3747G>T	XP_024306029.1:p.Gln1249His
XR_932836.2:n.3892G>T
XR_932837.3:n.3692G>T
XR_932838.3:n.3692G>T
NM_001171.6:c.3711G>T MANE Select	NP_001162.5:p.Gln1237His