Canonical Allele Identifier: CA639141824

Gene:

Linked Data

• dbSNP Id: rs1308118584
• gnomAD v2: 22-36526012-G-T
• gnomAD v3: 22-36129964-G-T
• gnomAD v4: 22-36129964-G-T
• MyVariant Identifiers: chr22:g.36526012G>T (hg19) ; chr22:g.36129964G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36129964G>T , CM000684.2:g.36129964G>T	GRCh38
NC_000022.10:g.36526012G>T , CM000684.1:g.36526012G>T	GRCh37
NC_000022.9:g.34855958G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_430441.2:n.1547+3198C>A
XR_938219.1:n.2972C>A
XR_938220.1:n.2972C>A
XR_938221.1:n.1471+3898C>A
XR_001755516.2:n.4834C>A
XR_001755517.2:n.3061C>A
XR_001755518.2:n.4834C>A
XR_001755519.2:n.4834C>A
XR_001755520.2:n.4834C>A
XR_001755521.2:n.4834C>A
XR_001755522.2:n.1637-2191C>A
XR_001755525.2:n.1637-610C>A
XR_001755526.2:n.1637-2191C>A
XR_430441.4:n.1636+3198C>A