Canonical Allele Identifier: CA837538631

Gene:

Linked Data

• dbSNP Id: rs1287822976
• gnomAD v3: 7-30897393-C-T
• gnomAD v4: 7-30897393-C-T
• MyVariant Identifiers: chr7:g.30937008C>T (hg19) ; chr7:g.30897393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897393C>T , CM000669.2:g.30897393C>T	GRCh38
NC_000007.13:g.30937008C>T , CM000669.1:g.30937008C>T	GRCh37
NC_000007.12:g.30903533C>T	NCBI36
NG_007475.2:g.49000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.621+14400C>T