Canonical Allele Identifier: CA735499840

Gene: MTF1

Linked Data

• dbSNP Id: rs1408040392
• gnomAD v3: 1-37812802-G-T
• gnomAD v4: 1-37812802-G-T
• MyVariant Identifiers: chr1:g.38278474G>T (hg19) ; chr1:g.37812802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37812802G>T , CM000663.2:g.37812802G>T	GRCh38
NC_000001.10:g.38278474G>T , CM000663.1:g.38278474G>T	GRCh37
NC_000001.9:g.38051061G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373036.5:c.*2334C>A MANE Select	ENSP00000362127.3:n.*2334C>A
ENST00000373036.4:c.*2334C>A	ENSP00000362127.3:n.*2334C>A
NM_005955.2:c.*2334C>A	NP_005946.2:n.*2334C>A
XM_011541491.1:c.*2334C>A	XP_011539793.1:n.*2334C>A
XM_011541492.1:c.*2334C>A	XP_011539794.1:n.*2334C>A
XM_011541494.1:c.*2334C>A	XP_011539796.1:n.*2334C>A
XM_011541491.2:c.*2334C>A	XP_011539793.1:n.*2334C>A
NM_005955.3:c.*2334C>A MANE Select	NP_005946.2:n.*2334C>A