Canonical Allele Identifier: CA342649022

Gene: EFNA1

Linked Data

• MyVariant Identifiers: chr1:g.155106235C>A (hg19) ; chr1:g.155133759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133759C>A , CM000663.2:g.155133759C>A	GRCh38
NC_000001.10:g.155106235C>A , CM000663.1:g.155106235C>A	GRCh37
NC_000001.9:g.153372859C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.484C>A MANE Select	ENSP00000357392.3:p.Gln162Lys
ENST00000368406.2:c.418C>A	ENSP00000357391.2:p.Gln140Lys
ENST00000368407.7:c.484C>A	ENSP00000357392.3:p.Gln162Lys
ENST00000469878.5:n.735C>A
ENST00000474413.5:n.709C>A
ENST00000497282.1:n.527C>A
NM_004428.2:c.484C>A	NP_004419.2:p.Gln162Lys
NM_182685.1:c.418C>A	NP_872626.1:p.Gln140Lys
XM_005244940.3:c.295C>A	XP_005244997.1:p.Gln99Lys
NM_004428.3:c.484C>A MANE Select	NP_004419.2:p.Gln162Lys
NM_182685.2:c.418C>A	NP_872626.1:p.Gln140Lys