Canonical Allele Identifier: CA180209

Linked Data

ClinVar Variation Id: 167324
dbSNP Id: rs140653237
gnomAD v2: X-43809035-G-C
gnomAD v3: X-43949789-G-C
gnomAD v4: X-43949789-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43949789G>C , CM000685.2:g.43949789G>C GRCh38
NC_000023.10:g.43809035G>C , CM000685.1:g.43809035G>C GRCh37
NC_000023.9:g.43693979G>C NCBI36
NG_009832.1:g.28887C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000642620.1:c.*10C>G (NDP) MANE Select ENSP00000495972.1:n.*10C>G
ENST00000647044.1:c.*10C>G (NDP) ENSP00000495811.1:n.*10C>G
ENST00000378062.5:c.*10C>G (NDP) ENSP00000367301.5:n.*10C>G
ENST00000470584.1:n.456C>G (NDP)
NM_000266.3:c.*10C>G (NDP) NP_000257.1:n.*10C>G
NR_046631.1:n.58G>C (NDP-AS1)
NM_000266.4:c.*10C>G (NDP) MANE Select NP_000257.1:n.*10C>G