Canonical Allele Identifier: CA1163306532
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs1640761838
gnomAD v4: 1-37813151-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37813151A>G , CM000663.2:g.37813151A>G GRCh38
NC_000001.10:g.38278823A>G , CM000663.1:g.38278823A>G GRCh37
NC_000001.9:g.38051410A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*1985T>C MANE Select ENSP00000362127.3:n.*1985T>C
ENST00000373036.4:c.*1985T>C ENSP00000362127.3:n.*1985T>C
NM_005955.2:c.*1985T>C NP_005946.2:n.*1985T>C
XM_011541491.1:c.*1985T>C XP_011539793.1:n.*1985T>C
XM_011541492.1:c.*1985T>C XP_011539794.1:n.*1985T>C
XM_011541494.1:c.*1985T>C XP_011539796.1:n.*1985T>C
XM_011541491.2:c.*1985T>C XP_011539793.1:n.*1985T>C
NM_005955.3:c.*1985T>C MANE Select NP_005946.2:n.*1985T>C
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