Canonical Allele Identifier: CA072170
Gene: EFHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221941
ClinVar RCV Id: RCV000207392
dbSNP Id: rs370357320

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232633949C>T , CM000664.2:g.232633949C>T GRCh38
NC_000002.11:g.233498659C>T , CM000664.1:g.233498659C>T GRCh37
NC_000002.10:g.233206903C>T NCBI36
NG_051251.1:g.32893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264059.8:c.245C>T MANE Select ENSP00000264059.3:p.Thr82Met
ENST00000264059.7:c.245C>T ENSP00000264059.3:p.Thr82Met
ENST00000409613.5:c.14+27776C>T ENSP00000386556.1:n.14+27776C>T
ENST00000442845.1:c.234C>T
NM_001243252.1:c.14+27776C>T NP_001230181.1:n.14+27776C>T
NM_001308395.1:c.-171C>T NP_001295324.1:n.-171C>T
NM_025202.3:c.245C>T NP_079478.1:p.Thr82Met
NM_025202.4:c.245C>T MANE Select NP_079478.1:p.Thr82Met
NM_001308395.2:c.-171C>T NP_001295324.1:n.-171C>T
NM_001243252.2:c.14+27776C>T NP_001230181.1:n.14+27776C>T