Canonical Allele Identifier: CA342648910

Gene: EFNA1

Linked Data

• MyVariant Identifiers: chr1:g.155106223C>A (hg19) ; chr1:g.155133747C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133747C>A , CM000663.2:g.155133747C>A	GRCh38
NC_000001.10:g.155106223C>A , CM000663.1:g.155106223C>A	GRCh37
NC_000001.9:g.153372847C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.472C>A MANE Select	ENSP00000357392.3:p.His158Asn
ENST00000368406.2:c.406C>A	ENSP00000357391.2:p.His136Asn
ENST00000368407.7:c.472C>A	ENSP00000357392.3:p.His158Asn
ENST00000469878.5:n.723C>A
ENST00000474413.5:n.697C>A
ENST00000497282.1:n.515C>A
NM_004428.2:c.472C>A	NP_004419.2:p.His158Asn
NM_182685.1:c.406C>A	NP_872626.1:p.His136Asn
XM_005244940.3:c.283C>A	XP_005244997.1:p.His95Asn
NM_004428.3:c.472C>A MANE Select	NP_004419.2:p.His158Asn
NM_182685.2:c.406C>A	NP_872626.1:p.His136Asn