Canonical Allele Identifier: CA837548423

Gene:

Linked Data

• dbSNP Id: rs1437789163
• gnomAD v3: 7-30911458-A-T
• gnomAD v4: 7-30911458-A-T
• MyVariant Identifiers: chr7:g.30951073A>T (hg19) ; chr7:g.30911458A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911458A>T , CM000669.2:g.30911458A>T	GRCh38
NC_000007.13:g.30951073A>T , CM000669.1:g.30951073A>T	GRCh37
NC_000007.12:g.30917598A>T	NCBI36
NG_007475.2:g.63065A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-535A>T