Canonical Allele Identifier: CA49795488
Gene: TGFA HGNC NCBI

Linked Data

dbSNP Id: rs11466287
gnomAD v2: 2-70677382-A-G
gnomAD v3: 2-70450250-A-G
gnomAD v4: 2-70450250-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70450250A>G , CM000664.2:g.70450250A>G GRCh38
NC_000002.11:g.70677382A>G , CM000664.1:g.70677382A>G GRCh37
NC_000002.10:g.70530890A>G NCBI36
NG_029975.1:g.108766T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295400.11:c.*609T>C MANE Select ENSP00000295400.6:n.*609T>C
ENST00000295400.10:c.*609T>C ENSP00000295400.6:n.*609T>C
ENST00000418333.6:c.*609T>C ENSP00000404099.2:n.*609T>C
ENST00000419940.5:c.379-629T>C
ENST00000445399.5:c.*19-629T>C ENSP00000387493.1:n.*19-629T>C
NM_001099691.2:c.*609T>C NP_001093161.1:n.*609T>C
NM_001308158.1:c.*609T>C NP_001295087.1:n.*609T>C
NM_001308159.1:c.*609T>C NP_001295088.1:n.*609T>C
NM_003236.3:c.*609T>C NP_003227.1:n.*609T>C
NM_003236.4:c.*609T>C MANE Select NP_003227.1:n.*609T>C
NM_001099691.3:c.*609T>C NP_001093161.1:n.*609T>C
NM_001308158.2:c.*609T>C NP_001295087.1:n.*609T>C
NM_001308159.2:c.*609T>C NP_001295088.1:n.*609T>C