Canonical Allele Identifier: CA228572313
Gene:

Linked Data

dbSNP Id: rs185389909
gnomAD v2: 11-112037686-C-A
gnomAD v3: 11-112166963-C-A
gnomAD v4: 11-112166963-C-A
MyVariant Identifiers: chr11:g.112037686C>A (hg19) chr11:g.112166963C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112166963C>A , CM000673.2:g.112166963C>A GRCh38
NC_000011.9:g.112037686C>A , CM000673.1:g.112037686C>A GRCh37
NC_000011.8:g.111542896C>A NCBI36
NG_028143.1:g.2155G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-3456C>A
ENST00000531744.5:c.315-3456C>A ENSP00000456957.1:n.315-3456C>A
ENST00000532699.1:c.315-3456C>A ENSP00000456434.1:n.315-3456C>A
Search 100 bp 5'
Search 100 bp 3'