Canonical Allele Identifier: CA1000681013
Gene: MTF1 HGNC NCBI

Linked Data

gnomAD v3: 1-37812949-A-C
gnomAD v4: 1-37812949-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37812949A>C , CM000663.2:g.37812949A>C GRCh38
NC_000001.10:g.38278621A>C , CM000663.1:g.38278621A>C GRCh37
NC_000001.9:g.38051208A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*2187T>G MANE Select ENSP00000362127.3:n.*2187T>G
ENST00000373036.4:c.*2187T>G ENSP00000362127.3:n.*2187T>G
NM_005955.2:c.*2187T>G NP_005946.2:n.*2187T>G
XM_011541491.1:c.*2187T>G XP_011539793.1:n.*2187T>G
XM_011541492.1:c.*2187T>G XP_011539794.1:n.*2187T>G
XM_011541494.1:c.*2187T>G XP_011539796.1:n.*2187T>G
XM_011541491.2:c.*2187T>G XP_011539793.1:n.*2187T>G
NM_005955.3:c.*2187T>G MANE Select NP_005946.2:n.*2187T>G
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