Canonical Allele Identifier: CA493797343

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248829C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154972C>G , CM000678.2:g.16154972C>G	GRCh38
NC_000016.9:g.16248829C>G , CM000678.1:g.16248829C>G	GRCh37
NC_000016.8:g.16156330C>G	NCBI36
NG_007558.2:g.73500G>C
NG_007558.3:g.73646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.805G>C
ENST00000622290.5:c.*114G>C	ENSP00000483331.2:n.*114G>C
ENST00000205557.12:c.3942G>C MANE Select	ENSP00000205557.7:p.Arg1314=
ENST00000640696.1:c.756G>C	ENSP00000492197.1:p.Arg252=
ENST00000205557.11:c.3942G>C	ENSP00000205557.7:p.Arg1314=
ENST00000456970.6:c.3567G>C	ENSP00000405002.2:n.3567G>C
ENST00000576204.5:n.805G>C
ENST00000622290.4:c.*1151G>C	ENSP00000483331.1:n.*1151G>C
NM_001171.5:c.3942G>C	NP_001162.4:p.Arg1314=
XM_011522479.1:c.3909G>C	XP_011520781.1:p.Arg1303=
XM_011522480.1:c.3600G>C	XP_011520782.1:p.Arg1200=
XM_011522481.1:c.3600G>C	XP_011520783.1:p.Arg1200=
XR_932836.1:n.4240G>C
XR_932837.1:n.3978G>C
XR_932838.1:n.4041G>C
XR_933134.1:n.539-4809C>G
NM_001351800.1:c.3600G>C	NP_001338729.1:p.Arg1200=
NR_147784.1:n.3604G>C
XM_011522479.2:c.3909G>C	XP_011520781.1:p.Arg1303=
XM_011522481.3:c.3600G>C	XP_011520783.1:p.Arg1200=
XM_017023212.1:c.3774G>C	XP_016878701.1:p.Arg1258=
XM_024450261.1:c.3978G>C	XP_024306029.1:p.Arg1326=
XR_932836.2:n.4186G>C
XR_932837.3:n.3923G>C
XR_932838.3:n.3986G>C
NM_001171.6:c.3942G>C MANE Select	NP_001162.5:p.Arg1314=