Canonical Allele Identifier: CA7925247

Gene: ABCC6

Linked Data

• dbSNP Id: rs775319351
• ExAC: 16:16244597 C / G
• gnomAD v2: 16-16244597-C-G
• gnomAD v4: 16-16150740-C-G
• MyVariant Identifiers: chr16:g.16244597C>G (hg19) ; chr16:g.16150740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150740C>G , CM000678.2:g.16150740C>G	GRCh38
NC_000016.9:g.16244597C>G , CM000678.1:g.16244597C>G	GRCh37
NC_000016.8:g.16152098C>G	NCBI36
NG_007558.2:g.77732G>C
NG_007558.3:g.77878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*413G>C	ENSP00000483331.2:n.*413G>C
ENST00000205557.12:c.4241G>C MANE Select	ENSP00000205557.7:p.Arg1414Pro
ENST00000640696.1:c.1055G>C	ENSP00000492197.1:p.Arg352Pro
ENST00000205557.11:c.4241G>C	ENSP00000205557.7:p.Arg1414Pro
ENST00000456970.6:c.3866G>C	ENSP00000405002.2:n.3866G>C
ENST00000576204.5:n.1104G>C
ENST00000622290.4:c.*1450G>C	ENSP00000483331.1:n.*1450G>C
NM_001171.5:c.4241G>C	NP_001162.4:p.Arg1414Pro
XM_011522479.1:c.4208G>C	XP_011520781.1:p.Arg1403Pro
XM_011522480.1:c.3899G>C	XP_011520782.1:p.Arg1300Pro
XM_011522481.1:c.3899G>C	XP_011520783.1:p.Arg1300Pro
XR_933134.1:n.538+6450C>G
NM_001351800.1:c.3899G>C	NP_001338729.1:p.Arg1300Pro
NR_147784.1:n.3903G>C
XM_011522479.2:c.4208G>C	XP_011520781.1:p.Arg1403Pro
XM_011522481.3:c.3899G>C	XP_011520783.1:p.Arg1300Pro
XM_017023212.1:c.4073G>C	XP_016878701.1:p.Arg1358Pro
XM_024450261.1:c.4277G>C	XP_024306029.1:p.Arg1426Pro
NM_001171.6:c.4241G>C MANE Select	NP_001162.5:p.Arg1414Pro