Canonical Allele Identifier: CA522032269
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs1254019080
gnomAD v2: 1-38278824-T-C
gnomAD v3: 1-37813152-T-C
gnomAD v4: 1-37813152-T-C
MyVariant Identifiers: chr1:g.38278824T>C (hg19) chr1:g.37813152T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37813152T>C , CM000663.2:g.37813152T>C GRCh38
NC_000001.10:g.38278824T>C , CM000663.1:g.38278824T>C GRCh37
NC_000001.9:g.38051411T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*1984A>G MANE Select ENSP00000362127.3:n.*1984A>G
ENST00000373036.4:c.*1984A>G ENSP00000362127.3:n.*1984A>G
NM_005955.2:c.*1984A>G NP_005946.2:n.*1984A>G
XM_011541491.1:c.*1984A>G XP_011539793.1:n.*1984A>G
XM_011541492.1:c.*1984A>G XP_011539794.1:n.*1984A>G
XM_011541494.1:c.*1984A>G XP_011539796.1:n.*1984A>G
XM_011541491.2:c.*1984A>G XP_011539793.1:n.*1984A>G
NM_005955.3:c.*1984A>G MANE Select NP_005946.2:n.*1984A>G
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