Canonical Allele Identifier: CA1259573987
Gene: TGFA HGNC NCBI

Linked Data

dbSNP Id: rs1670014372
gnomAD v4: 2-70450309-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70450309G>A , CM000664.2:g.70450309G>A GRCh38
NC_000002.11:g.70677441G>A , CM000664.1:g.70677441G>A GRCh37
NC_000002.10:g.70530949G>A NCBI36
NG_029975.1:g.108707C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295400.11:c.*550C>T MANE Select ENSP00000295400.6:n.*550C>T
ENST00000295400.10:c.*550C>T ENSP00000295400.6:n.*550C>T
ENST00000418333.6:c.*550C>T ENSP00000404099.2:n.*550C>T
ENST00000419940.5:c.379-688C>T
ENST00000445399.5:c.*19-688C>T ENSP00000387493.1:n.*19-688C>T
NM_001099691.2:c.*550C>T NP_001093161.1:n.*550C>T
NM_001308158.1:c.*550C>T NP_001295087.1:n.*550C>T
NM_001308159.1:c.*550C>T NP_001295088.1:n.*550C>T
NM_003236.3:c.*550C>T NP_003227.1:n.*550C>T
NM_003236.4:c.*550C>T MANE Select NP_003227.1:n.*550C>T
NM_001099691.3:c.*550C>T NP_001093161.1:n.*550C>T
NM_001308158.2:c.*550C>T NP_001295087.1:n.*550C>T
NM_001308159.2:c.*550C>T NP_001295088.1:n.*550C>T