Canonical Allele Identifier: CA168905118

Gene:

Linked Data

• dbSNP Id: rs191944606
• gnomAD v2: 7-148504303-G-A
• gnomAD v3: 7-148807211-G-A
• gnomAD v4: 7-148807211-G-A
• MyVariant Identifiers: chr7:g.148504303G>A (hg19) ; chr7:g.148807211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807211G>A , CM000669.2:g.148807211G>A	GRCh38
NC_000007.13:g.148504303G>A , CM000669.1:g.148504303G>A	GRCh37
NC_000007.12:g.148135236G>A	NCBI36
NG_032043.1:g.82139C>T , LRG_531:g.82139C>T

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2126G>A
XR_928102.1:n.722+2126G>A