Canonical Allele Identifier: CA278625354

Gene: ABCC6

Linked Data

• dbSNP Id: rs58259232
• MyVariant Identifiers: chr16:g.16248760T>G (hg19) ; chr16:g.16154903T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154903T>G , CM000678.2:g.16154903T>G	GRCh38
NC_000016.9:g.16248760T>G , CM000678.1:g.16248760T>G	GRCh37
NC_000016.8:g.16156261T>G	NCBI36
NG_007558.2:g.73569A>C
NG_007558.3:g.73715A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.874A>C
ENST00000622290.5:c.*183A>C	ENSP00000483331.2:n.*183A>C
ENST00000205557.12:c.4011A>C MANE Select	ENSP00000205557.7:p.Thr1337=
ENST00000640696.1:c.825A>C	ENSP00000492197.1:p.Thr275=
ENST00000205557.11:c.4011A>C	ENSP00000205557.7:p.Thr1337=
ENST00000456970.6:c.3636A>C	ENSP00000405002.2:n.3636A>C
ENST00000576204.5:n.874A>C
ENST00000622290.4:c.*1220A>C	ENSP00000483331.1:n.*1220A>C
NM_001171.5:c.4011A>C	NP_001162.4:p.Thr1337=
XM_011522479.1:c.3978A>C	XP_011520781.1:p.Thr1326=
XM_011522480.1:c.3669A>C	XP_011520782.1:p.Thr1223=
XM_011522481.1:c.3669A>C	XP_011520783.1:p.Thr1223=
XR_933134.1:n.539-4878T>G
NM_001351800.1:c.3669A>C	NP_001338729.1:p.Thr1223=
NR_147784.1:n.3673A>C
XM_011522479.2:c.3978A>C	XP_011520781.1:p.Thr1326=
XM_011522481.3:c.3669A>C	XP_011520783.1:p.Thr1223=
XM_017023212.1:c.3843A>C	XP_016878701.1:p.Thr1281=
XM_024450261.1:c.4047A>C	XP_024306029.1:p.Thr1349=
NM_001171.6:c.4011A>C MANE Select	NP_001162.5:p.Thr1337=