Canonical Allele Identifier: CA493799570

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150739-A-G
• MyVariant Identifiers: chr16:g.16244596A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150739A>G , CM000678.2:g.16150739A>G	GRCh38
NC_000016.9:g.16244596A>G , CM000678.1:g.16244596A>G	GRCh37
NC_000016.8:g.16152097A>G	NCBI36
NG_007558.2:g.77733T>C
NG_007558.3:g.77879T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*414T>C	ENSP00000483331.2:n.*414T>C
ENST00000205557.12:c.4242T>C MANE Select	ENSP00000205557.7:p.Arg1414=
ENST00000640696.1:c.1056T>C	ENSP00000492197.1:p.Arg352=
ENST00000205557.11:c.4242T>C	ENSP00000205557.7:p.Arg1414=
ENST00000456970.6:c.3867T>C	ENSP00000405002.2:n.3867T>C
ENST00000576204.5:n.1105T>C
ENST00000622290.4:c.*1451T>C	ENSP00000483331.1:n.*1451T>C
NM_001171.5:c.4242T>C	NP_001162.4:p.Arg1414=
XM_011522479.1:c.4209T>C	XP_011520781.1:p.Arg1403=
XM_011522480.1:c.3900T>C	XP_011520782.1:p.Arg1300=
XM_011522481.1:c.3900T>C	XP_011520783.1:p.Arg1300=
XR_933134.1:n.538+6449A>G
NM_001351800.1:c.3900T>C	NP_001338729.1:p.Arg1300=
NR_147784.1:n.3904T>C
XM_011522479.2:c.4209T>C	XP_011520781.1:p.Arg1403=
XM_011522481.3:c.3900T>C	XP_011520783.1:p.Arg1300=
XM_017023212.1:c.4074T>C	XP_016878701.1:p.Arg1358=
XM_024450261.1:c.4278T>C	XP_024306029.1:p.Arg1426=
NM_001171.6:c.4242T>C MANE Select	NP_001162.5:p.Arg1414=