Canonical Allele Identifier: CA799753501
Gene:

Linked Data

dbSNP Id: rs1421486589
gnomAD v3: 4-89655780-A-G
gnomAD v4: 4-89655780-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89655780A>G , CM000666.2:g.89655780A>G GRCh38
NC_000004.11:g.90576931A>G , CM000666.1:g.90576931A>G GRCh37
NC_000004.10:g.90795954A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.434+27863A>G
XR_938987.1:n.688+27863A>G
XR_938988.1:n.554+27863A>G
XR_938990.1:n.299-35505A>G
XR_938991.1:n.434+27863A>G
XR_938994.1:n.779+27863A>G
XR_938995.1:n.613+27863A>G
XR_938986.2:n.459+27863A>G
XR_938987.2:n.748+27863A>G