Canonical Allele Identifier: CA394884063

Gene: ABCC6

Linked Data

• dbSNP Id: rs1287240953
• MyVariant Identifiers: chr16:g.16244616G>T (hg19) ; chr16:g.16150759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150759G>T , CM000678.2:g.16150759G>T	GRCh38
NC_000016.9:g.16244616G>T , CM000678.1:g.16244616G>T	GRCh37
NC_000016.8:g.16152117G>T	NCBI36
NG_007558.2:g.77713C>A
NG_007558.3:g.77859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*394C>A	ENSP00000483331.2:n.*394C>A
ENST00000205557.12:c.4222C>A MANE Select	ENSP00000205557.7:p.Gln1408Lys
ENST00000640696.1:c.1036C>A	ENSP00000492197.1:p.Gln346Lys
ENST00000205557.11:c.4222C>A	ENSP00000205557.7:p.Gln1408Lys
ENST00000456970.6:c.3847C>A	ENSP00000405002.2:n.3847C>A
ENST00000576204.5:n.1085C>A
ENST00000622290.4:c.*1431C>A	ENSP00000483331.1:n.*1431C>A
NM_001171.5:c.4222C>A	NP_001162.4:p.Gln1408Lys
XM_011522479.1:c.4189C>A	XP_011520781.1:p.Gln1397Lys
XM_011522480.1:c.3880C>A	XP_011520782.1:p.Gln1294Lys
XM_011522481.1:c.3880C>A	XP_011520783.1:p.Gln1294Lys
XR_933134.1:n.538+6469G>T
NM_001351800.1:c.3880C>A	NP_001338729.1:p.Gln1294Lys
NR_147784.1:n.3884C>A
XM_011522479.2:c.4189C>A	XP_011520781.1:p.Gln1397Lys
XM_011522481.3:c.3880C>A	XP_011520783.1:p.Gln1294Lys
XM_017023212.1:c.4054C>A	XP_016878701.1:p.Gln1352Lys
XM_024450261.1:c.4258C>A	XP_024306029.1:p.Gln1420Lys
NM_001171.6:c.4222C>A MANE Select	NP_001162.5:p.Gln1408Lys