Canonical Allele Identifier: CA17879890
Gene: C1orf127 HGNC NCBI

Linked Data

dbSNP Id: rs116283733
gnomAD v2: 1-11033054-C-T
gnomAD v3: 1-10972997-C-T
gnomAD v4: 1-10972997-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10972997C>T , CM000663.2:g.10972997C>T GRCh38
NC_000001.10:g.11033054C>T , CM000663.1:g.11033054C>T GRCh37
NC_000001.9:g.10955641C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377004.9:c.128-2908G>A MANE Select ENSP00000366203.4:n.128-2908G>A
ENST00000377004.8:c.128-2908G>A ENSP00000366203.4:n.128-2908G>A
ENST00000520253.1:c.61-2908G>A
NM_001170754.1:c.128-2908G>A NP_001164225.1:n.128-2908G>A
NM_001170754.2:c.128-2908G>A MANE Select NP_001164225.1:n.128-2908G>A