Canonical Allele Identifier: CA1099869662
Gene:

Linked Data

gnomAD v3: 7-30911515-A-C
gnomAD v4: 7-30911515-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30911515A>C , CM000669.2:g.30911515A>C GRCh38
NC_000007.13:g.30951130A>C , CM000669.1:g.30951130A>C GRCh37
NC_000007.12:g.30917655A>C NCBI36
NG_007475.2:g.63122A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000509504.2:c.622-478A>C
Search 100 bp 5'
Search 100 bp 3'