Canonical Allele Identifier: CA522032259
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs1329462105
gnomAD v2: 1-38278729-G-A
gnomAD v3: 1-37813057-G-A
gnomAD v4: 1-37813057-G-A
MyVariant Identifiers: chr1:g.38278729G>A (hg19) chr1:g.37813057G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37813057G>A , CM000663.2:g.37813057G>A GRCh38
NC_000001.10:g.38278729G>A , CM000663.1:g.38278729G>A GRCh37
NC_000001.9:g.38051316G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*2079C>T MANE Select ENSP00000362127.3:n.*2079C>T
ENST00000373036.4:c.*2079C>T ENSP00000362127.3:n.*2079C>T
NM_005955.2:c.*2079C>T NP_005946.2:n.*2079C>T
XM_011541491.1:c.*2079C>T XP_011539793.1:n.*2079C>T
XM_011541492.1:c.*2079C>T XP_011539794.1:n.*2079C>T
XM_011541494.1:c.*2079C>T XP_011539796.1:n.*2079C>T
XM_011541491.2:c.*2079C>T XP_011539793.1:n.*2079C>T
NM_005955.3:c.*2079C>T MANE Select NP_005946.2:n.*2079C>T
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