Canonical Allele Identifier: CA394875582

Gene: ABCC6

Linked Data

• dbSNP Id: rs60320257
• gnomAD v2: 16-16248775-G-T
• gnomAD v4: 16-16154918-G-T
• MyVariant Identifiers: chr16:g.16248775G>T (hg19) ; chr16:g.16154918G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154918G>T , CM000678.2:g.16154918G>T	GRCh38
NC_000016.9:g.16248775G>T , CM000678.1:g.16248775G>T	GRCh37
NC_000016.8:g.16156276G>T	NCBI36
NG_007558.2:g.73554C>A
NG_007558.3:g.73700C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.859C>A
ENST00000622290.5:c.*168C>A	ENSP00000483331.2:n.*168C>A
ENST00000205557.12:c.3996C>A MANE Select	ENSP00000205557.7:p.His1332Gln
ENST00000640696.1:c.810C>A	ENSP00000492197.1:p.His270Gln
ENST00000205557.11:c.3996C>A	ENSP00000205557.7:p.His1332Gln
ENST00000456970.6:c.3621C>A	ENSP00000405002.2:n.3621C>A
ENST00000576204.5:n.859C>A
ENST00000622290.4:c.*1205C>A	ENSP00000483331.1:n.*1205C>A
NM_001171.5:c.3996C>A	NP_001162.4:p.His1332Gln
XM_011522479.1:c.3963C>A	XP_011520781.1:p.His1321Gln
XM_011522480.1:c.3654C>A	XP_011520782.1:p.His1218Gln
XM_011522481.1:c.3654C>A	XP_011520783.1:p.His1218Gln
XR_933134.1:n.539-4863G>T
NM_001351800.1:c.3654C>A	NP_001338729.1:p.His1218Gln
NR_147784.1:n.3658C>A
XM_011522479.2:c.3963C>A	XP_011520781.1:p.His1321Gln
XM_011522481.3:c.3654C>A	XP_011520783.1:p.His1218Gln
XM_017023212.1:c.3828C>A	XP_016878701.1:p.His1276Gln
XM_024450261.1:c.4032C>A	XP_024306029.1:p.His1344Gln
NM_001171.6:c.3996C>A MANE Select	NP_001162.5:p.His1332Gln