Allele Registry

Canonical Allele Identifier: CA10755428

Gene: EGLN1 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN6446958 (not active)

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.231395881T>C

GRCh37 chr1:g.231531627T>C

Linked Data - Sequence & Population

gnomAD v2:

1:231531627 T / C

gnomAD v3:

1:231395881 T / C

gnomAD v4:

chr1-231395881-T-C

Joint Max Group AF 0.75359661 (NFE)

Genomes Max Group AF 0.75359661 (NFE)

Linked Data - NCBI & NCI

dbSNP:

480902

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231395881T>C , CM000663.2:g.231395881T>C	GRCh38
NC_000001.10:g.231531627T>C , CM000663.1:g.231531627T>C	GRCh37
NC_000001.9:g.229598250T>C	NCBI36
NG_015865.1:g.34164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.892-21782A>G MANE Select	ENSP00000355601.3:n.892-21782A>G
ENST00000476717.2:n.169-21782A>G
ENST00000653198.1:n.434-21782A>G
ENST00000653908.1:c.31-21782A>G	ENSP00000499669.1:n.31-21782A>G
ENST00000654803.1:c.114-21782A>G
ENST00000658954.1:c.266-21782A>G
ENST00000662216.1:c.31-21782A>G	ENSP00000499467.1:n.31-21782A>G
ENST00000667629.1:c.196-21782A>G	ENSP00000499629.1:n.196-21782A>G
ENST00000670301.1:c.229+25117A>G
ENST00000366641.3:c.892-21782A>G	ENSP00000355601.3:n.892-21782A>G
ENST00000476717.1:n.169-21782A>G
NM_022051.2:c.892-21782A>G	NP_071334.1:n.892-21782A>G
XM_005273166.3:c.892-21782A>G	XP_005273223.1:n.892-21782A>G
XM_005273167.3:c.892-21782A>G	XP_005273224.1:n.892-21782A>G
XM_005273166.5:c.892-21782A>G	XP_005273223.1:n.892-21782A>G
XM_005273167.5:c.892-21782A>G	XP_005273224.1:n.892-21782A>G
XM_024447734.1:c.892-21782A>G	XP_024303502.1:n.892-21782A>G
NM_001377260.1:c.892-21782A>G	NP_001364189.1:n.892-21782A>G
NM_001377261.1:c.892-21782A>G	NP_001364190.1:n.892-21782A>G
NM_022051.3:c.892-21782A>G MANE Select	NP_071334.1:n.892-21782A>G

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