Canonical Allele Identifier: CA573460465

Gene:

Linked Data

• dbSNP Id: rs979376425
• gnomAD v2: 7-30937042-C-A
• gnomAD v3: 7-30897427-C-A
• gnomAD v4: 7-30897427-C-A
• MyVariant Identifiers: chr7:g.30937042C>A (hg19) ; chr7:g.30897427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897427C>A , CM000669.2:g.30897427C>A	GRCh38
NC_000007.13:g.30937042C>A , CM000669.1:g.30937042C>A	GRCh37
NC_000007.12:g.30903567C>A	NCBI36
NG_007475.2:g.49034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.621+14434C>A