Canonical Allele Identifier: CA342648962

Gene: EFNA1

Linked Data

• gnomAD v3: 1-155133751-A-G
• gnomAD v4: 1-155133751-A-G
• COSMIC: COSM6340560
• MyVariant Identifiers: chr1:g.155106227A>G (hg19) ; chr1:g.155133751A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133751A>G , CM000663.2:g.155133751A>G	GRCh38
NC_000001.10:g.155106227A>G , CM000663.1:g.155106227A>G	GRCh37
NC_000001.9:g.153372851A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.476A>G MANE Select	ENSP00000357392.3:p.Asp159Gly
ENST00000368406.2:c.410A>G	ENSP00000357391.2:p.Asp137Gly
ENST00000368407.7:c.476A>G	ENSP00000357392.3:p.Asp159Gly
ENST00000469878.5:n.727A>G
ENST00000474413.5:n.701A>G
ENST00000497282.1:n.519A>G
NM_004428.2:c.476A>G	NP_004419.2:p.Asp159Gly
NM_182685.1:c.410A>G	NP_872626.1:p.Asp137Gly
XM_005244940.3:c.287A>G	XP_005244997.1:p.Asp96Gly
NM_004428.3:c.476A>G MANE Select	NP_004419.2:p.Asp159Gly
NM_182685.2:c.410A>G	NP_872626.1:p.Asp137Gly