Canonical Allele Identifier: CA493797396

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248847C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154990C>G , CM000678.2:g.16154990C>G	GRCh38
NC_000016.9:g.16248847C>G , CM000678.1:g.16248847C>G	GRCh37
NC_000016.8:g.16156348C>G	NCBI36
NG_007558.2:g.73482G>C
NG_007558.3:g.73628G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.787G>C
ENST00000622290.5:c.*96G>C	ENSP00000483331.2:n.*96G>C
ENST00000205557.12:c.3924G>C MANE Select	ENSP00000205557.7:p.Leu1308=
ENST00000640696.1:c.738G>C	ENSP00000492197.1:p.Leu246=
ENST00000205557.11:c.3924G>C	ENSP00000205557.7:p.Leu1308=
ENST00000456970.6:c.3549G>C	ENSP00000405002.2:n.3549G>C
ENST00000576204.5:n.787G>C
ENST00000622290.4:c.*1133G>C	ENSP00000483331.1:n.*1133G>C
NM_001171.5:c.3924G>C	NP_001162.4:p.Leu1308=
XM_011522479.1:c.3891G>C	XP_011520781.1:p.Leu1297=
XM_011522480.1:c.3582G>C	XP_011520782.1:p.Leu1194=
XM_011522481.1:c.3582G>C	XP_011520783.1:p.Leu1194=
XR_932836.1:n.4222G>C
XR_932837.1:n.3960G>C
XR_932838.1:n.4023G>C
XR_933134.1:n.539-4791C>G
NM_001351800.1:c.3582G>C	NP_001338729.1:p.Leu1194=
NR_147784.1:n.3586G>C
XM_011522479.2:c.3891G>C	XP_011520781.1:p.Leu1297=
XM_011522481.3:c.3582G>C	XP_011520783.1:p.Leu1194=
XM_017023212.1:c.3756G>C	XP_016878701.1:p.Leu1252=
XM_024450261.1:c.3960G>C	XP_024306029.1:p.Leu1320=
XR_932836.2:n.4168G>C
XR_932837.3:n.3905G>C
XR_932838.3:n.3968G>C
NM_001171.6:c.3924G>C MANE Select	NP_001162.5:p.Leu1308=