Canonical Allele Identifier: CA8118651
Gene: EDC4 HGNC NCBI
COSMIC:
COSM3754985 (not active)
MyVariant.info:
GRCh38 chr16:g.67877614T>C
GRCh37 chr16:g.67911517T>C
gnomAD v2:
16:67911517 T / C
gnomAD v3:
16:67877614 T / C
gnomAD v4:
chr16-67877614-T-C
Joint Max Group AF 0.6409806 (AFR)
Genomes Max Group AF 0.63093048 (AFR)
Exomes Max Group AF 0.64897725 (AFR)
dbSNP:
8060686
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67877614T>C , CM000678.2:g.67877614T>C GRCh38
NC_000016.9:g.67911517T>C , CM000678.1:g.67911517T>C GRCh37
NC_000016.8:g.66469018T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358933.10:c.747T>C MANE Select ENSP00000351811.5:p.Cys249=
ENST00000358933.9:c.747T>C ENSP00000351811.5:p.Cys249=
ENST00000536072.6:n.752T>C
ENST00000572221.5:n.1057T>C
ENST00000573992.5:n.126T>C
ENST00000574770.5:n.511T>C
NM_014329.4:c.747T>C NP_055144.3:p.Cys249=
NM_014329.5:c.747T>C MANE Select NP_055144.3:p.Cys249=
Search 100 bp 5'
Search 100 bp 3'