Canonical Allele Identifier: CA2644964300
Gene: MTF1 HGNC NCBI

Linked Data

gnomAD v4: 1-37812869-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37812869C>T , CM000663.2:g.37812869C>T GRCh38
NC_000001.10:g.38278541C>T , CM000663.1:g.38278541C>T GRCh37
NC_000001.9:g.38051128C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*2267G>A MANE Select ENSP00000362127.3:n.*2267G>A
ENST00000373036.4:c.*2267G>A ENSP00000362127.3:n.*2267G>A
NM_005955.2:c.*2267G>A NP_005946.2:n.*2267G>A
XM_011541491.1:c.*2267G>A XP_011539793.1:n.*2267G>A
XM_011541492.1:c.*2267G>A XP_011539794.1:n.*2267G>A
XM_011541494.1:c.*2267G>A XP_011539796.1:n.*2267G>A
XM_011541491.2:c.*2267G>A XP_011539793.1:n.*2267G>A
NM_005955.3:c.*2267G>A MANE Select NP_005946.2:n.*2267G>A