Canonical Allele Identifier: CA7925364

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2137789
• ClinVar RCV Id: RCV003064325
• dbSNP Id: rs766105758
• ExAC: 16:16248795 C / T
• gnomAD v2: 16-16248795-C-T
• gnomAD v3: 16-16154938-C-T
• gnomAD v4: 16-16154938-C-T
• MyVariant Identifiers: chr16:g.16248795C>T (hg19) ; chr16:g.16154938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154938C>T , CM000678.2:g.16154938C>T	GRCh38
NC_000016.9:g.16248795C>T , CM000678.1:g.16248795C>T	GRCh37
NC_000016.8:g.16156296C>T	NCBI36
NG_007558.2:g.73534G>A
NG_007558.3:g.73680G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.839G>A
ENST00000622290.5:c.*148G>A	ENSP00000483331.2:n.*148G>A
ENST00000205557.12:c.3976G>A MANE Select	ENSP00000205557.7:p.Asp1326Asn
ENST00000640696.1:c.790G>A	ENSP00000492197.1:p.Asp264Asn
ENST00000205557.11:c.3976G>A	ENSP00000205557.7:p.Asp1326Asn
ENST00000456970.6:c.3601G>A	ENSP00000405002.2:n.3601G>A
ENST00000576204.5:n.839G>A
ENST00000622290.4:c.*1185G>A	ENSP00000483331.1:n.*1185G>A
NM_001171.5:c.3976G>A	NP_001162.4:p.Asp1326Asn
XM_011522479.1:c.3943G>A	XP_011520781.1:p.Asp1315Asn
XM_011522480.1:c.3634G>A	XP_011520782.1:p.Asp1212Asn
XM_011522481.1:c.3634G>A	XP_011520783.1:p.Asp1212Asn
XR_933134.1:n.539-4843C>T
NM_001351800.1:c.3634G>A	NP_001338729.1:p.Asp1212Asn
NR_147784.1:n.3638G>A
XM_011522479.2:c.3943G>A	XP_011520781.1:p.Asp1315Asn
XM_011522481.3:c.3634G>A	XP_011520783.1:p.Asp1212Asn
XM_017023212.1:c.3808G>A	XP_016878701.1:p.Asp1270Asn
XM_024450261.1:c.4012G>A	XP_024306029.1:p.Asp1338Asn
NM_001171.6:c.3976G>A MANE Select	NP_001162.5:p.Asp1326Asn