Canonical Allele Identifier: CA837538821

Gene:

Linked Data

• dbSNP Id: rs1313924395
• gnomAD v3: 7-30897616-G-C
• gnomAD v4: 7-30897616-G-C
• MyVariant Identifiers: chr7:g.30937231G>C (hg19) ; chr7:g.30897616G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897616G>C , CM000669.2:g.30897616G>C	GRCh38
NC_000007.13:g.30937231G>C , CM000669.1:g.30937231G>C	GRCh37
NC_000007.12:g.30903756G>C	NCBI36
NG_007475.2:g.49223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.622-14377G>C