Canonical Allele Identifier: CA20854728
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs991259895
gnomAD v4: 1-37813083-C-G
MyVariant Identifiers: chr1:g.38278755C>G (hg19) chr1:g.37813083C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37813083C>G , CM000663.2:g.37813083C>G GRCh38
NC_000001.10:g.38278755C>G , CM000663.1:g.38278755C>G GRCh37
NC_000001.9:g.38051342C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*2053G>C MANE Select ENSP00000362127.3:n.*2053G>C
ENST00000373036.4:c.*2053G>C ENSP00000362127.3:n.*2053G>C
NM_005955.2:c.*2053G>C NP_005946.2:n.*2053G>C
XM_011541491.1:c.*2053G>C XP_011539793.1:n.*2053G>C
XM_011541492.1:c.*2053G>C XP_011539794.1:n.*2053G>C
XM_011541494.1:c.*2053G>C XP_011539796.1:n.*2053G>C
XM_011541491.2:c.*2053G>C XP_011539793.1:n.*2053G>C
NM_005955.3:c.*2053G>C MANE Select NP_005946.2:n.*2053G>C
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