Canonical Allele Identifier: CA962939622

Gene:

Linked Data

• gnomAD v3: 14-49067708-T-G
• gnomAD v4: 14-49067708-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49067708T>G , CM000676.2:g.49067708T>G	GRCh38
NC_000014.8:g.49534426T>G , CM000676.1:g.49534426T>G	GRCh37
NC_000014.7:g.48604176T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943837.1:n.222+2084A>C
XR_943837.2:n.345+2084A>C