Canonical Allele Identifier: CA345239685

Gene: EGLN1

Linked Data

• ClinVar Variation Id: 1414304
• ClinVar RCV Id: RCV001928620
• dbSNP Id: rs1308120626
• gnomAD v4: 1-231421886-C-A
• MyVariant Identifiers: chr1:g.231557632C>A (hg19) ; chr1:g.231421886C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231421886C>A , CM000663.2:g.231421886C>A	GRCh38
NC_000001.10:g.231557632C>A , CM000663.1:g.231557632C>A	GRCh37
NC_000001.9:g.229624255C>A	NCBI36
NG_015865.1:g.8159G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366641.4:c.3G>T MANE Select	ENSP00000355601.3:p.Met1Ile
ENST00000653198.1:n.433+40586G>T
ENST00000653908.1:c.30+40552G>T	ENSP00000499669.1:n.30+40552G>T
ENST00000662216.1:c.30+40552G>T	ENSP00000499467.1:n.30+40552G>T
ENST00000366641.3:c.3G>T	ENSP00000355601.3:p.Met1Ile
NM_022051.2:c.3G>T	NP_071334.1:p.Met1Ile
XM_005273166.3:c.3G>T	XP_005273223.1:p.Met1Ile
XM_005273167.3:c.3G>T	XP_005273224.1:p.Met1Ile
XM_005273166.5:c.3G>T	XP_005273223.1:p.Met1Ile
XM_005273167.5:c.3G>T	XP_005273224.1:p.Met1Ile
XM_024447734.1:c.3G>T	XP_024303502.1:p.Met1Ile
NM_001377260.1:c.3G>T	NP_001364189.1:p.Met1Ile
NM_001377261.1:c.3G>T	NP_001364190.1:p.Met1Ile
NM_022051.3:c.3G>T MANE Select	NP_071334.1:p.Met1Ile