Canonical Allele Identifier: CA394883477

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2119803
• ClinVar RCV Id: RCV003033277
• COSMIC: COSM6403012
• MyVariant Identifiers: chr16:g.16244013C>T (hg19) ; chr16:g.16150156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150156C>T , CM000678.2:g.16150156C>T	GRCh38
NC_000016.9:g.16244013C>T , CM000678.1:g.16244013C>T	GRCh37
NC_000016.8:g.16151514C>T	NCBI36
NG_007558.2:g.78316G>A
NG_007558.3:g.78462G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*661G>A	ENSP00000483331.2:n.*661G>A
ENST00000205557.12:c.4489G>A MANE Select	ENSP00000205557.7:p.Ala1497Thr
ENST00000640696.1:c.1303G>A	ENSP00000492197.1:p.Ala435Thr
ENST00000205557.11:c.4489G>A	ENSP00000205557.7:p.Ala1497Thr
ENST00000456970.6:c.4114G>A	ENSP00000405002.2:n.4114G>A
ENST00000576204.5:n.1352G>A
ENST00000622290.4:c.*1698G>A	ENSP00000483331.1:n.*1698G>A
NM_001171.5:c.4489G>A	NP_001162.4:p.Ala1497Thr
XM_011522479.1:c.4456G>A	XP_011520781.1:p.Ala1486Thr
XM_011522480.1:c.4147G>A	XP_011520782.1:p.Ala1383Thr
XM_011522481.1:c.4147G>A	XP_011520783.1:p.Ala1383Thr
XR_933134.1:n.538+5866C>T
NM_001351800.1:c.4147G>A	NP_001338729.1:p.Ala1383Thr
NR_147784.1:n.4151G>A
XM_011522479.2:c.4456G>A	XP_011520781.1:p.Ala1486Thr
XM_011522481.3:c.4147G>A	XP_011520783.1:p.Ala1383Thr
XM_017023212.1:c.4321G>A	XP_016878701.1:p.Ala1441Thr
XM_024450261.1:c.4525G>A	XP_024306029.1:p.Ala1509Thr
NM_001171.6:c.4489G>A MANE Select	NP_001162.5:p.Ala1497Thr