Allele Registry

Canonical Allele Identifier: CA3709954

Gene: TCF19 HGNC NCBI
POU5F1 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN15656088 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.31166166C>A

GRCh37 chr6:g.31133943C>A

Revel Score:

ENST00000541552 0.017

Linked Data - Sequence & Population

gnomAD v2:

6:31133943 C / A

gnomAD v3:

6:31166166 C / A

gnomAD v4:

chr6-31166166-C-A

Joint Max Group AF 0.78845069 (AFR)

Genomes Max Group AF 0.78448573 (AFR)

Exomes Max Group AF 0.78844928 (AFR)

Linked Data - NCBI & NCI

dbSNP:

3130932

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31166166C>A , CM000668.2:g.31166166C>A	GRCh38
NC_000006.11:g.31133943C>A , CM000668.1:g.31133943C>A	GRCh37
NC_000006.10:g.31241922C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542218.2:c.798-114C>A (TCF19)	ENSP00000439397.2:n.798-114C>A
ENST00000259915.13:c.406-119G>T (POU5F1) MANE Select	ENSP00000259915.7:n.406-119G>T
ENST00000606567.6:c.-105-119G>T (POU5F1)	ENSP00000475880.2:n.-105-119G>T
ENST00000259915.12:c.406-119G>T (POU5F1)	ENSP00000259915.7:n.406-119G>T
ENST00000441888.7:c.-183-119G>T (POU5F1)	ENSP00000389359.2:n.-183-119G>T
ENST00000461401.1:n.444-119G>T (POU5F1)
ENST00000471529.6:c.-302G>T (POU5F1)	ENSP00000425083.1:n.-302G>T
ENST00000512818.5:c.-183-119G>T (POU5F1)	ENSP00000425479.1:n.-183-119G>T
ENST00000513407.1:c.-527G>T (POU5F1)	ENSP00000475512.1:n.-527G>T
ENST00000542218.1:c.558-114C>A (TCF19)	ENSP00000439397.1:n.558-114C>A
ENST00000606567.5:c.-105-119G>T (POU5F1)	ENSP00000475880.1:n.-105-119G>T
ENST00000619340.1:c.406-119G>T (POU5F1)	ENSP00000481679.1:n.406-119G>T
ENST00000620031.4:c.-105-119G>T (POU5F1)	ENSP00000484778.1:n.-105-119G>T
NM_001173531.2:c.-105-119G>T (POU5F1)	NP_001167002.1:n.-105-119G>T
NM_001285986.1:c.-527G>T (POU5F1)	NP_001272915.1:n.-527G>T
NM_002701.5:c.406-119G>T (POU5F1)	NP_002692.2:n.406-119G>T
NM_203289.5:c.-224G>T (POU5F1)	NP_976034.4:n.-224G>T
NM_002701.6:c.406-119G>T (POU5F1) MANE Select	NP_002692.2:n.406-119G>T
NM_001173531.3:c.-105-119G>T (POU5F1)	NP_001167002.1:n.-105-119G>T
NM_001285986.2:c.-527G>T (POU5F1)	NP_001272915.1:n.-527G>T
NM_203289.6:c.-224G>T (POU5F1)	NP_976034.4:n.-224G>T

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