Canonical Allele Identifier: CA2664003117
Gene:

Linked Data

gnomAD v4: 2-240868462-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868462G>T , CM000664.2:g.240868462G>T GRCh38
NC_000002.11:g.241807879G>T , CM000664.1:g.241807879G>T GRCh37
NC_000002.10:g.241456552G>T NCBI36
NG_008005.1:g.4718G>T

Transcript Alleles

HGVS Amino-acid Change
XR_924060.1:n.405+1771C>A
Search 100 bp 5'
Search 100 bp 3'