Canonical Allele Identifier: CA394884556

Gene: ABCC6

Linked Data

• COSMIC: COSM3356803
• MyVariant Identifiers: chr16:g.16248560A>G (hg19) ; chr16:g.16154703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154703A>G , CM000678.2:g.16154703A>G	GRCh38
NC_000016.9:g.16248560A>G , CM000678.1:g.16248560A>G	GRCh37
NC_000016.8:g.16156061A>G	NCBI36
NG_007558.2:g.73769T>C
NG_007558.3:g.73915T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*305T>C	ENSP00000483331.2:n.*305T>C
ENST00000205557.12:c.4133T>C MANE Select	ENSP00000205557.7:p.Val1378Ala
ENST00000640696.1:c.947T>C	ENSP00000492197.1:p.Val316Ala
ENST00000205557.11:c.4133T>C	ENSP00000205557.7:p.Val1378Ala
ENST00000456970.6:c.3758T>C	ENSP00000405002.2:n.3758T>C
ENST00000576204.5:n.996T>C
ENST00000622290.4:c.*1342T>C	ENSP00000483331.1:n.*1342T>C
NM_001171.5:c.4133T>C	NP_001162.4:p.Val1378Ala
XM_011522479.1:c.4100T>C	XP_011520781.1:p.Val1367Ala
XM_011522480.1:c.3791T>C	XP_011520782.1:p.Val1264Ala
XM_011522481.1:c.3791T>C	XP_011520783.1:p.Val1264Ala
XR_933134.1:n.539-5078A>G
NM_001351800.1:c.3791T>C	NP_001338729.1:p.Val1264Ala
NR_147784.1:n.3795T>C
XM_011522479.2:c.4100T>C	XP_011520781.1:p.Val1367Ala
XM_011522481.3:c.3791T>C	XP_011520783.1:p.Val1264Ala
XM_017023212.1:c.3965T>C	XP_016878701.1:p.Val1322Ala
XM_024450261.1:c.4169T>C	XP_024306029.1:p.Val1390Ala
NM_001171.6:c.4133T>C MANE Select	NP_001162.5:p.Val1378Ala