Canonical Allele Identifier: CA788850046
Gene:

Linked Data

dbSNP Id: rs1221297318
gnomAD v3: 4-148748447-T-C
gnomAD v4: 4-148748447-T-C
MyVariant Identifiers: chr4:g.149669599T>C (hg19) chr4:g.148748447T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148748447T>C , CM000666.2:g.148748447T>C GRCh38
NC_000004.11:g.149669599T>C , CM000666.1:g.149669599T>C GRCh37
NC_000004.10:g.149889049T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741441.1:n.1746-118310T>C
Search 100 bp 5'
Search 100 bp 3'