Canonical Allele Identifier: CA8118651
Gene: EDC4 HGNC NCBI

Linked Data

dbSNP Id: rs8060686
ExAC: 16:67911517 T / C
gnomAD v2: 16-67911517-T-C
gnomAD v3: 16-67877614-T-C
gnomAD v4: 16-67877614-T-C
MyVariant Identifiers: chr16:g.67911517T>C (hg19) chr16:g.67877614T>C (hg38)
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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'