Canonical Allele Identifier: CA20854734
Gene: MTF1 HGNC NCBI

Linked Data

dbSNP Id: rs972175478
gnomAD v3: 1-37813098-T-C
gnomAD v4: 1-37813098-T-C
MyVariant Identifiers: chr1:g.38278770T>C (hg19) chr1:g.37813098T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.37813098T>C , CM000663.2:g.37813098T>C GRCh38
NC_000001.10:g.38278770T>C , CM000663.1:g.38278770T>C GRCh37
NC_000001.9:g.38051357T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373036.5:c.*2038A>G MANE Select ENSP00000362127.3:n.*2038A>G
ENST00000373036.4:c.*2038A>G ENSP00000362127.3:n.*2038A>G
NM_005955.2:c.*2038A>G NP_005946.2:n.*2038A>G
XM_011541491.1:c.*2038A>G XP_011539793.1:n.*2038A>G
XM_011541492.1:c.*2038A>G XP_011539794.1:n.*2038A>G
XM_011541494.1:c.*2038A>G XP_011539796.1:n.*2038A>G
XM_011541491.2:c.*2038A>G XP_011539793.1:n.*2038A>G
NM_005955.3:c.*2038A>G MANE Select NP_005946.2:n.*2038A>G
Search 100 bp 5'
Search 100 bp 3'