Canonical Allele Identifier: CA342649136

Gene: EFNA1

Linked Data

• MyVariant Identifiers: chr1:g.155106247C>G (hg19) ; chr1:g.155133771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133771C>G , CM000663.2:g.155133771C>G	GRCh38
NC_000001.10:g.155106247C>G , CM000663.1:g.155106247C>G	GRCh37
NC_000001.9:g.153372871C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.496C>G MANE Select	ENSP00000357392.3:p.Leu166Val
ENST00000368406.2:c.430C>G	ENSP00000357391.2:p.Leu144Val
ENST00000368407.7:c.496C>G	ENSP00000357392.3:p.Leu166Val
ENST00000469878.5:n.747C>G
ENST00000474413.5:n.721C>G
ENST00000497282.1:n.539C>G
NM_004428.2:c.496C>G	NP_004419.2:p.Leu166Val
NM_182685.1:c.430C>G	NP_872626.1:p.Leu144Val
XM_005244940.3:c.307C>G	XP_005244997.1:p.Leu103Val
NM_004428.3:c.496C>G MANE Select	NP_004419.2:p.Leu166Val
NM_182685.2:c.430C>G	NP_872626.1:p.Leu144Val