Canonical Allele Identifier: CA1099865441

Gene:

Linked Data

• dbSNP Id: rs1790896787
• gnomAD v3: 7-30897541-A-G
• gnomAD v4: 7-30897541-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897541A>G , CM000669.2:g.30897541A>G	GRCh38
NC_000007.13:g.30937156A>G , CM000669.1:g.30937156A>G	GRCh37
NC_000007.12:g.30903681A>G	NCBI36
NG_007475.2:g.49148A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-14452A>G