Canonical Allele Identifier: CA107971400
Gene:

Linked Data

dbSNP Id: rs760746174
gnomAD v3: 4-148649534-C-G
gnomAD v4: 4-148649534-C-G
MyVariant Identifiers: chr4:g.149570686C>G (hg19) chr4:g.148649534C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649534C>G , CM000666.2:g.148649534C>G GRCh38
NC_000004.11:g.149570686C>G , CM000666.1:g.149570686C>G GRCh37
NC_000004.10:g.149790136C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939336.1:n.437-30666G>C
XR_001741441.1:n.1745+104950C>G
XR_939336.3:n.2921-30666G>C
Search 100 bp 5'
Search 100 bp 3'