Canonical Allele Identifier: CA10728488
Gene: C1orf141 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.67135003G>T
GRCh37 chr1:g.67600686G>T
gnomAD v2:
1:67600686 G / T
gnomAD v3:
1:67135003 G / T
gnomAD v4:
chr1-67135003-G-T
Joint Max Group AF 0.42998921 (AMR)
Genomes Max Group AF 0.42998921 (AMR)
Exomes Max Group AF 0.1564774 (EAS)
dbSNP:
12044149
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67135003G>T , CM000663.2:g.67135003G>T GRCh38
NC_000001.10:g.67600686G>T , CM000663.1:g.67600686G>T GRCh37
NC_000001.9:g.67373274G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000371007.6:c.-103-3776C>A ENSP00000360046.1:n.-103-3776C>A
ENST00000448166.6:c.-103-3776C>A ENSP00000415519.2:n.-103-3776C>A
XM_011541464.1:c.-177C>A XP_011539766.1:n.-177C>A
XM_011541465.1:c.-91C>A XP_011539767.1:n.-91C>A
XM_011541466.1:c.-18+6611C>A XP_011539768.1:n.-18+6611C>A
XM_011541471.1:c.-177C>A XP_011539773.1:n.-177C>A
XM_011541466.2:c.-18+6611C>A XP_011539768.1:n.-18+6611C>A
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