Canonical Allele Identifier: CA12000961
Gene: C5orf67 HGNC NCBI
COSMIC:
COSN14904120 (not active)
MyVariant.info:
GRCh38 chr5:g.56537692G>T
GRCh37 chr5:g.55833519G>T
gnomAD v2:
5:55833519 G / T
gnomAD v3:
5:56537692 G / T
gnomAD v4:
chr5-56537692-G-T
Joint Max Group AF 0.70672424 (NFE)
Genomes Max Group AF 0.70672424 (NFE)
dbSNP:
30360
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56537692G>T , CM000667.2:g.56537692G>T GRCh38
NC_000005.9:g.55833519G>T , CM000667.1:g.55833519G>T GRCh37
NC_000005.8:g.55869276G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000438651.5:c.33-2464C>A ENSP00000406718.1:n.33-2464C>A
NM_001287053.1:c.33-2464C>A NP_001273982.1:n.33-2464C>A
XR_948343.1:n.1604C>A
XR_948344.1:n.2010C>A
XM_017008942.1:c.33-2464C>A XP_016864431.1:n.33-2464C>A
XR_948344.2:n.2010C>A
NR_161255.1:n.283-2464C>A
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