Canonical Allele Identifier: CA1163306479
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs145561038
gnomAD v4: 1-37813018-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37813018C>A , CM000663.2:g.37813018C>A GRCh38
NC_000001.10:g.38278690C>A , CM000663.1:g.38278690C>A GRCh37
NC_000001.9:g.38051277C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*2118G>T MANE Select ENSP00000362127.3:n.*2118G>T
ENST00000373036.4:c.*2118G>T ENSP00000362127.3:n.*2118G>T
NM_005955.2:c.*2118G>T NP_005946.2:n.*2118G>T
XM_011541491.1:c.*2118G>T XP_011539793.1:n.*2118G>T
XM_011541492.1:c.*2118G>T XP_011539794.1:n.*2118G>T
XM_011541494.1:c.*2118G>T XP_011539796.1:n.*2118G>T
XM_011541491.2:c.*2118G>T XP_011539793.1:n.*2118G>T
NM_005955.3:c.*2118G>T MANE Select NP_005946.2:n.*2118G>T