Canonical Allele Identifier: CA837548482

Gene:

Linked Data

• dbSNP Id: rs1301910122
• gnomAD v3: 7-30911511-A-G
• gnomAD v4: 7-30911511-A-G
• MyVariant Identifiers: chr7:g.30951126A>G (hg19) ; chr7:g.30911511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911511A>G , CM000669.2:g.30911511A>G	GRCh38
NC_000007.13:g.30951126A>G , CM000669.1:g.30951126A>G	GRCh37
NC_000007.12:g.30917651A>G	NCBI36
NG_007475.2:g.63118A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-482A>G