Canonical Allele Identifier: CA342649089

Gene: EFNA1

Linked Data

• dbSNP Id: rs1388514930
• gnomAD v4: 1-155133765-A-G
• MyVariant Identifiers: chr1:g.155106241A>G (hg19) ; chr1:g.155133765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133765A>G , CM000663.2:g.155133765A>G	GRCh38
NC_000001.10:g.155106241A>G , CM000663.1:g.155106241A>G	GRCh37
NC_000001.9:g.153372865A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.490A>G MANE Select	ENSP00000357392.3:p.Lys164Glu
ENST00000368406.2:c.424A>G	ENSP00000357391.2:p.Lys142Glu
ENST00000368407.7:c.490A>G	ENSP00000357392.3:p.Lys164Glu
ENST00000469878.5:n.741A>G
ENST00000474413.5:n.715A>G
ENST00000497282.1:n.533A>G
NM_004428.2:c.490A>G	NP_004419.2:p.Lys164Glu
NM_182685.1:c.424A>G	NP_872626.1:p.Lys142Glu
XM_005244940.3:c.301A>G	XP_005244997.1:p.Lys101Glu
NM_004428.3:c.490A>G MANE Select	NP_004419.2:p.Lys164Glu
NM_182685.2:c.424A>G	NP_872626.1:p.Lys142Glu