Canonical Allele Identifier: CA10391400

Linked Data

ClinVar Variation Id: 805079
ClinVar RCV Id: RCV000992422
dbSNP Id: rs372300274
gnomAD v2: X-43809042-G-T
gnomAD v3: X-43949796-G-T
gnomAD v4: X-43949796-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949796G>T , CM000685.2:g.43949796G>T GRCh38
NC_000023.10:g.43809042G>T , CM000685.1:g.43809042G>T GRCh37
NC_000023.9:g.43693986G>T NCBI36
NG_009832.1:g.28880C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.*3C>A (NDP) MANE Select ENSP00000495972.1:n.*3C>A
ENST00000647044.1:c.*3C>A (NDP) ENSP00000495811.1:n.*3C>A
ENST00000378062.5:c.*3C>A (NDP) ENSP00000367301.5:n.*3C>A
ENST00000470584.1:n.449C>A (NDP)
NM_000266.3:c.*3C>A (NDP) NP_000257.1:n.*3C>A
NR_046631.1:n.65G>T (NDP-AS1)
NM_000266.4:c.*3C>A (NDP) MANE Select NP_000257.1:n.*3C>A