Canonical Allele Identifier: CA342649050

Gene: EFNA1

Linked Data

• MyVariant Identifiers: chr1:g.155106237G>C (hg19) ; chr1:g.155133761G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133761G>C , CM000663.2:g.155133761G>C	GRCh38
NC_000001.10:g.155106237G>C , CM000663.1:g.155106237G>C	GRCh37
NC_000001.9:g.153372861G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.486G>C MANE Select	ENSP00000357392.3:p.Gln162His
ENST00000368406.2:c.420G>C	ENSP00000357391.2:p.Gln140His
ENST00000368407.7:c.486G>C	ENSP00000357392.3:p.Gln162His
ENST00000469878.5:n.737G>C
ENST00000474413.5:n.711G>C
ENST00000497282.1:n.529G>C
NM_004428.2:c.486G>C	NP_004419.2:p.Gln162His
NM_182685.1:c.420G>C	NP_872626.1:p.Gln140His
XM_005244940.3:c.297G>C	XP_005244997.1:p.Gln99His
NM_004428.3:c.486G>C MANE Select	NP_004419.2:p.Gln162His
NM_182685.2:c.420G>C	NP_872626.1:p.Gln140His