Canonical Allele Identifier: CA960867037

Gene:

Linked Data

• dbSNP Id: rs1879068396
• gnomAD v3: 14-20793508-A-C
• gnomAD v4: 14-20793508-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.20793508A>C , CM000676.2:g.20793508A>C	GRCh38
NC_000014.8:g.21261667A>C , CM000676.1:g.21261667A>C	GRCh37
NC_000014.7:g.20331507A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943584.1:n.585+722A>C
XR_943585.1:n.585+722A>C
XR_001750620.1:n.3271+722A>C
XR_001750621.1:n.3271+722A>C
XR_001750622.1:n.637+6396T>G
XR_001750623.1:n.637+6396T>G
XR_001750624.1:n.637+6396T>G