Canonical Allele Identifier: CA424040852

Gene: EGLN1

Linked Data

• ClinVar Variation Id: 1768948
• ClinVar RCV Id: RCV002383165
• gnomAD v4: 1-231421880-A-G
• MyVariant Identifiers: chr1:g.231557626A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231421880A>G , CM000663.2:g.231421880A>G	GRCh38
NC_000001.10:g.231557626A>G , CM000663.1:g.231557626A>G	GRCh37
NC_000001.9:g.229624249A>G	NCBI36
NG_015865.1:g.8165T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366641.4:c.9T>C MANE Select	ENSP00000355601.3:p.Asn3=
ENST00000653198.1:n.433+40592T>C
ENST00000653908.1:c.30+40558T>C	ENSP00000499669.1:n.30+40558T>C
ENST00000662216.1:c.30+40558T>C	ENSP00000499467.1:n.30+40558T>C
ENST00000366641.3:c.9T>C	ENSP00000355601.3:p.Asn3=
NM_022051.2:c.9T>C	NP_071334.1:p.Asn3=
XM_005273166.3:c.9T>C	XP_005273223.1:p.Asn3=
XM_005273167.3:c.9T>C	XP_005273224.1:p.Asn3=
XM_005273166.5:c.9T>C	XP_005273223.1:p.Asn3=
XM_005273167.5:c.9T>C	XP_005273224.1:p.Asn3=
XM_024447734.1:c.9T>C	XP_024303502.1:p.Asn3=
NM_001377260.1:c.9T>C	NP_001364189.1:p.Asn3=
NM_001377261.1:c.9T>C	NP_001364190.1:p.Asn3=
NM_022051.3:c.9T>C MANE Select	NP_071334.1:p.Asn3=