Canonical Allele Identifier: CA323577575

Gene:

Linked Data

• dbSNP Id: rs892083928
• gnomAD v3: 22-36129895-C-G
• gnomAD v4: 22-36129895-C-G
• MyVariant Identifiers: chr22:g.36525943C>G (hg19) ; chr22:g.36129895C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129895C>G , CM000684.2:g.36129895C>G	GRCh38
NC_000022.10:g.36525943C>G , CM000684.1:g.36525943C>G	GRCh37
NC_000022.9:g.34855889C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3267G>C
XR_938219.1:n.3041G>C
XR_938220.1:n.3041G>C
XR_938221.1:n.1471+3967G>C
XR_001755516.2:n.4903G>C
XR_001755517.2:n.3130G>C
XR_001755518.2:n.4903G>C
XR_001755519.2:n.4903G>C
XR_001755520.2:n.4903G>C
XR_001755521.2:n.4903G>C
XR_001755522.2:n.1637-2122G>C
XR_001755525.2:n.1637-541G>C
XR_001755526.2:n.1637-2122G>C
XR_430441.4:n.1636+3267G>C