Canonical Allele Identifier: CA837538715

Gene:

Linked Data

• dbSNP Id: rs1240235641
• gnomAD v3: 7-30897507-C-T
• gnomAD v4: 7-30897507-C-T
• MyVariant Identifiers: chr7:g.30937122C>T (hg19) ; chr7:g.30897507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897507C>T , CM000669.2:g.30897507C>T	GRCh38
NC_000007.13:g.30937122C>T , CM000669.1:g.30937122C>T	GRCh37
NC_000007.12:g.30903647C>T	NCBI36
NG_007475.2:g.49114C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-14486C>T