Canonical Allele Identifier: CA17879716
Gene: C1orf127 HGNC NCBI

Linked Data

dbSNP Id: rs144579521
gnomAD v2: 1-11032690-C-G
gnomAD v3: 1-10972633-C-G
gnomAD v4: 1-10972633-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10972633C>G , CM000663.2:g.10972633C>G GRCh38
NC_000001.10:g.11032690C>G , CM000663.1:g.11032690C>G GRCh37
NC_000001.9:g.10955277C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377004.9:c.128-2544G>C MANE Select ENSP00000366203.4:n.128-2544G>C
ENST00000377004.8:c.128-2544G>C ENSP00000366203.4:n.128-2544G>C
ENST00000520253.1:c.61-2544G>C
NM_001170754.1:c.128-2544G>C NP_001164225.1:n.128-2544G>C
NM_001170754.2:c.128-2544G>C MANE Select NP_001164225.1:n.128-2544G>C