Canonical Allele Identifier: CA394884544

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248556C>G (hg19) ; chr16:g.16154699C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154699C>G , CM000678.2:g.16154699C>G	GRCh38
NC_000016.9:g.16248556C>G , CM000678.1:g.16248556C>G	GRCh37
NC_000016.8:g.16156057C>G	NCBI36
NG_007558.2:g.73773G>C
NG_007558.3:g.73919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*309G>C	ENSP00000483331.2:n.*309G>C
ENST00000205557.12:c.4137G>C MANE Select	ENSP00000205557.7:p.Gln1379His
ENST00000640696.1:c.951G>C	ENSP00000492197.1:p.Gln317His
ENST00000205557.11:c.4137G>C	ENSP00000205557.7:p.Gln1379His
ENST00000456970.6:c.3762G>C	ENSP00000405002.2:n.3762G>C
ENST00000576204.5:n.1000G>C
ENST00000622290.4:c.*1346G>C	ENSP00000483331.1:n.*1346G>C
NM_001171.5:c.4137G>C	NP_001162.4:p.Gln1379His
XM_011522479.1:c.4104G>C	XP_011520781.1:p.Gln1368His
XM_011522480.1:c.3795G>C	XP_011520782.1:p.Gln1265His
XM_011522481.1:c.3795G>C	XP_011520783.1:p.Gln1265His
XR_933134.1:n.539-5082C>G
NM_001351800.1:c.3795G>C	NP_001338729.1:p.Gln1265His
NR_147784.1:n.3799G>C
XM_011522479.2:c.4104G>C	XP_011520781.1:p.Gln1368His
XM_011522481.3:c.3795G>C	XP_011520783.1:p.Gln1265His
XM_017023212.1:c.3969G>C	XP_016878701.1:p.Gln1323His
XM_024450261.1:c.4173G>C	XP_024306029.1:p.Gln1391His
NM_001171.6:c.4137G>C MANE Select	NP_001162.5:p.Gln1379His