Canonical Allele Identifier: CA394883564

Gene: ABCC6

Linked Data

• dbSNP Id: rs1434309178
• gnomAD v2: 16-16244056-G-C
• gnomAD v4: 16-16150199-G-C
• MyVariant Identifiers: chr16:g.16244056G>C (hg19) ; chr16:g.16150199G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150199G>C , CM000678.2:g.16150199G>C	GRCh38
NC_000016.9:g.16244056G>C , CM000678.1:g.16244056G>C	GRCh37
NC_000016.8:g.16151557G>C	NCBI36
NG_007558.2:g.78273C>G
NG_007558.3:g.78419C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*618C>G	ENSP00000483331.2:n.*618C>G
ENST00000205557.12:c.4446C>G MANE Select	ENSP00000205557.7:p.Ser1482Arg
ENST00000640696.1:c.1260C>G	ENSP00000492197.1:p.Ser420Arg
ENST00000205557.11:c.4446C>G	ENSP00000205557.7:p.Ser1482Arg
ENST00000456970.6:c.4071C>G	ENSP00000405002.2:n.4071C>G
ENST00000576204.5:n.1309C>G
ENST00000622290.4:c.*1655C>G	ENSP00000483331.1:n.*1655C>G
NM_001171.5:c.4446C>G	NP_001162.4:p.Ser1482Arg
XM_011522479.1:c.4413C>G	XP_011520781.1:p.Ser1471Arg
XM_011522480.1:c.4104C>G	XP_011520782.1:p.Ser1368Arg
XM_011522481.1:c.4104C>G	XP_011520783.1:p.Ser1368Arg
XR_933134.1:n.538+5909G>C
NM_001351800.1:c.4104C>G	NP_001338729.1:p.Ser1368Arg
NR_147784.1:n.4108C>G
XM_011522479.2:c.4413C>G	XP_011520781.1:p.Ser1471Arg
XM_011522481.3:c.4104C>G	XP_011520783.1:p.Ser1368Arg
XM_017023212.1:c.4278C>G	XP_016878701.1:p.Ser1426Arg
XM_024450261.1:c.4482C>G	XP_024306029.1:p.Ser1494Arg
NM_001171.6:c.4446C>G MANE Select	NP_001162.5:p.Ser1482Arg