Canonical Allele Identifier: CA156094342

Gene:

Linked Data

• dbSNP Id: rs540253765
• MyVariant Identifiers: chr7:g.30937005C>A (hg19) ; chr7:g.30897390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30897390C>A , CM000669.2:g.30897390C>A	GRCh38
NC_000007.13:g.30937005C>A , CM000669.1:g.30937005C>A	GRCh37
NC_000007.12:g.30903530C>A	NCBI36
NG_007475.2:g.48997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509504.2:c.621+14397C>A