Canonical Allele Identifier: CA394884350

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154638C>G , CM000678.2:g.16154638C>G	GRCh38
NC_000016.9:g.16248495C>G , CM000678.1:g.16248495C>G	GRCh37
NC_000016.8:g.16155996C>G	NCBI36
NG_007558.2:g.73834G>C
NG_007558.3:g.73980G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.4198G>C MANE Select	NP_001162.5:p.Glu1400Gln
ENST00000205557.12:c.4198G>C MANE Select	ENSP00000205557.7:p.Glu1400Gln
NM_001171.5:c.4198G>C	NP_001162.4:p.Glu1400Gln
NM_001351800.1:c.3856G>C	NP_001338729.1:p.Glu1286Gln
NR_147784.1:n.3860G>C
ENST00000205557.11:c.4198G>C	ENSP00000205557.7:p.Glu1400Gln
ENST00000456970.6:c.3823G>C	ENSP00000405002.2:n.3823G>C
ENST00000576204.5:n.1061G>C
ENST00000622290.4:c.*1407G>C	ENSP00000483331.1:n.*1407G>C
ENST00000622290.5:c.*370G>C	ENSP00000483331.2:n.*370G>C
ENST00000640696.1:c.1012G>C	ENSP00000492197.1:p.Glu338Gln
XM_011522479.1:c.4165G>C	XP_011520781.1:p.Glu1389Gln
XM_011522479.2:c.4165G>C	XP_011520781.1:p.Glu1389Gln
XM_011522480.1:c.3856G>C	XP_011520782.1:p.Glu1286Gln
XM_011522481.1:c.3856G>C	XP_011520783.1:p.Glu1286Gln
XM_011522481.3:c.3856G>C	XP_011520783.1:p.Glu1286Gln
XM_017023212.1:c.4030G>C	XP_016878701.1:p.Glu1344Gln
XM_024450261.1:c.4234G>C	XP_024306029.1:p.Glu1412Gln
XR_933134.1:n.539-5143C>G