Canonical Allele Identifier: CA1025451873

Gene:

Linked Data

• dbSNP Id: rs1054616363
• gnomAD v3: 22-36129840-C-G
• gnomAD v4: 22-36129840-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129840C>G , CM000684.2:g.36129840C>G	GRCh38
NC_000022.10:g.36525888C>G , CM000684.1:g.36525888C>G	GRCh37
NC_000022.9:g.34855834C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3322G>C
XR_938219.1:n.3096G>C
XR_938220.1:n.3096G>C
XR_938221.1:n.1471+4022G>C
XR_001755516.2:n.4958G>C
XR_001755517.2:n.3185G>C
XR_001755518.2:n.4958G>C
XR_001755519.2:n.4958G>C
XR_001755520.2:n.4958G>C
XR_001755521.2:n.4958G>C
XR_001755522.2:n.1637-2067G>C
XR_001755525.2:n.1637-486G>C
XR_001755526.2:n.1637-2067G>C
XR_430441.4:n.1636+3322G>C