Canonical Allele Identifier: CA837548483

Gene:

Linked Data

• dbSNP Id: rs1233968960
• gnomAD v3: 7-30911514-A-C
• gnomAD v4: 7-30911514-A-C
• MyVariant Identifiers: chr7:g.30951129A>C (hg19) ; chr7:g.30911514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911514A>C , CM000669.2:g.30911514A>C	GRCh38
NC_000007.13:g.30951129A>C , CM000669.1:g.30951129A>C	GRCh37
NC_000007.12:g.30917654A>C	NCBI36
NG_007475.2:g.63121A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-479A>C