Canonical Allele Identifier: CA735499850
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs1270370586
gnomAD v3: 1-37812862-T-G
gnomAD v4: 1-37812862-T-G
MyVariant Identifiers: chr1:g.38278534T>G (hg19) chr1:g.37812862T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37812862T>G , CM000663.2:g.37812862T>G GRCh38
NC_000001.10:g.38278534T>G , CM000663.1:g.38278534T>G GRCh37
NC_000001.9:g.38051121T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*2274A>C MANE Select ENSP00000362127.3:n.*2274A>C
ENST00000373036.4:c.*2274A>C ENSP00000362127.3:n.*2274A>C
NM_005955.2:c.*2274A>C NP_005946.2:n.*2274A>C
XM_011541491.1:c.*2274A>C XP_011539793.1:n.*2274A>C
XM_011541492.1:c.*2274A>C XP_011539794.1:n.*2274A>C
XM_011541494.1:c.*2274A>C XP_011539796.1:n.*2274A>C
XM_011541491.2:c.*2274A>C XP_011539793.1:n.*2274A>C
NM_005955.3:c.*2274A>C MANE Select NP_005946.2:n.*2274A>C
Search 100 bp 5'
Search 100 bp 3'