Canonical Allele Identifier: CA168905119

Gene:

Linked Data

• dbSNP Id: rs1014956947
• gnomAD v3: 7-148807215-G-A
• gnomAD v4: 7-148807215-G-A
• MyVariant Identifiers: chr7:g.148504307G>A (hg19) ; chr7:g.148807215G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807215G>A , CM000669.2:g.148807215G>A	GRCh38
NC_000007.13:g.148504307G>A , CM000669.1:g.148504307G>A	GRCh37
NC_000007.12:g.148135240G>A	NCBI36
NG_032043.1:g.82135C>T , LRG_531:g.82135C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2130G>A
XR_928102.1:n.722+2130G>A