Allele Registry

Canonical Allele Identifier: CA10877012

Gene: MTF1 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN6455392 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.37814315T>C

GRCh37 chr1:g.38279987T>C

Linked Data - Sequence & Population

gnomAD v2:

1:38279987 T / C

gnomAD v3:

1:37814315 T / C

gnomAD v4:

chr1-37814315-T-C

Joint Max Group AF 0.29602065 (NFE)

Genomes Max Group AF 0.29602243 (NFE)

Exomes Max Group AF 0.18585021 (NFE)

Linked Data - NCBI & NCI

dbSNP:

3748682

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.37814315T>C , CM000663.2:g.37814315T>C	GRCh38
NC_000001.10:g.38279987T>C , CM000663.1:g.38279987T>C	GRCh37
NC_000001.9:g.38052574T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373036.5:c.*821A>G MANE Select	ENSP00000362127.3:n.*821A>G
ENST00000373036.4:c.*821A>G	ENSP00000362127.3:n.*821A>G
NM_005955.2:c.*821A>G	NP_005946.2:n.*821A>G
XM_011541491.1:c.*821A>G	XP_011539793.1:n.*821A>G
XM_011541492.1:c.*821A>G	XP_011539794.1:n.*821A>G
XM_011541494.1:c.*821A>G	XP_011539796.1:n.*821A>G
XM_011541491.2:c.*821A>G	XP_011539793.1:n.*821A>G
NM_005955.3:c.*821A>G MANE Select	NP_005946.2:n.*821A>G

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