Canonical Allele Identifier: CA7925603
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 433308
dbSNP Id: rs63750427

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163158C>T , CM000678.2:g.16163158C>T GRCh38
NC_000016.9:g.16257015C>T , CM000678.1:g.16257015C>T GRCh37
NC_000016.8:g.16164516C>T NCBI36
NG_007558.2:g.65314G>A
NG_007558.3:g.65460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3341G>A ENSP00000483331.2:p.Arg1114His
ENST00000205557.12:c.3341G>A MANE Select ENSP00000205557.7:p.Arg1114His
ENST00000640696.1:c.321-1594G>A ENSP00000492197.1:n.321-1594G>A
ENST00000205557.11:c.3341G>A ENSP00000205557.7:p.Arg1114His
ENST00000456970.6:c.3132-1594G>A ENSP00000405002.2:n.3132-1594G>A
ENST00000622290.4:c.*550G>A ENSP00000483331.1:n.*550G>A
NM_001171.5:c.3341G>A NP_001162.4:p.Arg1114His
XM_011522479.1:c.3308G>A XP_011520781.1:p.Arg1103His
XM_011522480.1:c.2999G>A XP_011520782.1:p.Arg1000His
XM_011522481.1:c.2999G>A XP_011520783.1:p.Arg1000His
XR_932836.1:n.3576G>A
XR_932837.1:n.3543-1594G>A
XR_932838.1:n.3543-1594G>A
XR_933133.1:n.407+315C>T
XR_933134.1:n.754+315C>T
NM_001351800.1:c.2999G>A NP_001338729.1:p.Arg1000His
NR_147784.1:n.3169-1594G>A
XM_011522479.2:c.3308G>A XP_011520781.1:p.Arg1103His
XM_011522481.3:c.2999G>A XP_011520783.1:p.Arg1000His
XM_017023212.1:c.3173G>A XP_016878701.1:p.Arg1058His
XM_017023214.1:c.3307-1594G>A XP_016878703.1:n.3307-1594G>A
XM_024450261.1:c.3377G>A XP_024306029.1:p.Arg1126His
XR_932836.2:n.3522G>A
XR_932837.3:n.3488-1594G>A
XR_932838.3:n.3488-1594G>A
NM_001171.6:c.3341G>A MANE Select NP_001162.5:p.Arg1114His