Canonical Allele Identifier: CA394875494

Gene: ABCC6

Linked Data

• dbSNP Id: rs63750622
• gnomAD v2: 16-16248755-C-G
• gnomAD v4: 16-16154898-C-G
• MyVariant Identifiers: chr16:g.16248755C>G (hg19) ; chr16:g.16154898C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154898C>G , CM000678.2:g.16154898C>G	GRCh38
NC_000016.9:g.16248755C>G , CM000678.1:g.16248755C>G	GRCh37
NC_000016.8:g.16156256C>G	NCBI36
NG_007558.2:g.73574G>C
NG_007558.3:g.73720G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.879G>C
ENST00000622290.5:c.*188G>C	ENSP00000483331.2:n.*188G>C
ENST00000205557.12:c.4016G>C MANE Select	ENSP00000205557.7:p.Arg1339Pro
ENST00000640696.1:c.830G>C	ENSP00000492197.1:p.Arg277Pro
ENST00000205557.11:c.4016G>C	ENSP00000205557.7:p.Arg1339Pro
ENST00000456970.6:c.3641G>C	ENSP00000405002.2:n.3641G>C
ENST00000576204.5:n.879G>C
ENST00000622290.4:c.*1225G>C	ENSP00000483331.1:n.*1225G>C
NM_001171.5:c.4016G>C	NP_001162.4:p.Arg1339Pro
XM_011522479.1:c.3983G>C	XP_011520781.1:p.Arg1328Pro
XM_011522480.1:c.3674G>C	XP_011520782.1:p.Arg1225Pro
XM_011522481.1:c.3674G>C	XP_011520783.1:p.Arg1225Pro
XR_933134.1:n.539-4883C>G
NM_001351800.1:c.3674G>C	NP_001338729.1:p.Arg1225Pro
NR_147784.1:n.3678G>C
XM_011522479.2:c.3983G>C	XP_011520781.1:p.Arg1328Pro
XM_011522481.3:c.3674G>C	XP_011520783.1:p.Arg1225Pro
XM_017023212.1:c.3848G>C	XP_016878701.1:p.Arg1283Pro
XM_024450261.1:c.4052G>C	XP_024306029.1:p.Arg1351Pro
NM_001171.6:c.4016G>C MANE Select	NP_001162.5:p.Arg1339Pro