Canonical Allele Identifier: CA20854621

Gene: MTF1

Linked Data

• dbSNP Id: rs936931262
• gnomAD v2: 1-38278491-A-G
• gnomAD v3: 1-37812819-A-G
• gnomAD v4: 1-37812819-A-G
• MyVariant Identifiers: chr1:g.38278491A>G (hg19) ; chr1:g.37812819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37812819A>G , CM000663.2:g.37812819A>G	GRCh38
NC_000001.10:g.38278491A>G , CM000663.1:g.38278491A>G	GRCh37
NC_000001.9:g.38051078A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373036.5:c.*2317T>C MANE Select	ENSP00000362127.3:n.*2317T>C
ENST00000373036.4:c.*2317T>C	ENSP00000362127.3:n.*2317T>C
NM_005955.2:c.*2317T>C	NP_005946.2:n.*2317T>C
XM_011541491.1:c.*2317T>C	XP_011539793.1:n.*2317T>C
XM_011541492.1:c.*2317T>C	XP_011539794.1:n.*2317T>C
XM_011541494.1:c.*2317T>C	XP_011539796.1:n.*2317T>C
XM_011541491.2:c.*2317T>C	XP_011539793.1:n.*2317T>C
NM_005955.3:c.*2317T>C MANE Select	NP_005946.2:n.*2317T>C