Canonical Allele Identifier: CA12231391
Gene: NELFE HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31952140T>C
GRCh37 chr6:g.31919917T>C
gnomAD v2:
6:31919917 T / C
gnomAD v3:
6:31952140 T / C
gnomAD v4:
chr6-31952140-T-C
Joint Max Group AF 0.18902352 (AFR)
Genomes Max Group AF 0.18955721 (AFR)
Exomes Max Group AF 0.18577654 (AFR)
ClinVar RCV:
RCV001609187
ClinVar Variation:
1227313
dbSNP:
522162
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31952140T>C , CM000668.2:g.31952140T>C GRCh38
NC_000006.11:g.31919917T>C , CM000668.1:g.31919917T>C GRCh37
NC_000006.10:g.32027896T>C NCBI36
NG_008191.1:g.11197T>C , LRG_136:g.11197T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375429.8:c.*161A>G MANE Select ENSP00000364578.3:n.*161A>G
ENST00000375429.7:c.*161A>G ENSP00000364578.3:n.*161A>G
NM_002904.5:c.*161A>G NP_002895.3:n.*161A>G
NM_002904.6:c.*161A>G MANE Select NP_002895.3:n.*161A>G
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