Canonical Allele Identifier: CA2590155174

Gene:

Linked Data

• dbSNP Id: rs2146702407
• gnomAD v3: 22-36129891-G-T
• gnomAD v4: 22-36129891-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129891G>T , CM000684.2:g.36129891G>T	GRCh38
NC_000022.10:g.36525939G>T , CM000684.1:g.36525939G>T	GRCh37
NC_000022.9:g.34855885G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3271C>A
XR_938219.1:n.3045C>A
XR_938220.1:n.3045C>A
XR_938221.1:n.1471+3971C>A
XR_001755516.2:n.4907C>A
XR_001755517.2:n.3134C>A
XR_001755518.2:n.4907C>A
XR_001755519.2:n.4907C>A
XR_001755520.2:n.4907C>A
XR_001755521.2:n.4907C>A
XR_001755522.2:n.1637-2118C>A
XR_001755525.2:n.1637-537C>A
XR_001755526.2:n.1637-2118C>A
XR_430441.4:n.1636+3271C>A