Canonical Allele Identifier: CA4227054
Gene: VPS41 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.38795435C>T
GRCh37 chr7:g.38835035C>T
gnomAD v2:
7:38835035 C / T
gnomAD v3:
7:38795435 C / T
gnomAD v4:
chr7-38795435-C-T
Joint Max Group AF 0.07241901 (AFR)
Genomes Max Group AF 0.07233987 (AFR)
Exomes Max Group AF 0.07101323 (AFR)
ClinVar RCV:
RCV001539348
ClinVar Variation:
1181871
dbSNP:
11984145
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.38795435C>T , CM000669.2:g.38795435C>T GRCh38
NC_000007.13:g.38835035C>T , CM000669.1:g.38835035C>T GRCh37
NC_000007.12:g.38801560C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310301.9:c.717+30G>A MANE Select ENSP00000309457.4:n.717+30G>A
ENST00000310301.8:c.717+30G>A ENSP00000309457.4:n.717+30G>A
ENST00000395969.6:c.642+30G>A ENSP00000379297.2:n.642+30G>A
ENST00000466017.1:n.257+30G>A
NM_014396.3:c.717+30G>A NP_055211.2:n.717+30G>A
NM_080631.3:c.642+30G>A NP_542198.2:n.642+30G>A
XR_926930.1:n.743+30G>A
XR_926930.3:n.743+30G>A
NM_014396.4:c.717+30G>A MANE Select NP_055211.2:n.717+30G>A
NM_080631.4:c.642+30G>A NP_542198.2:n.642+30G>A
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