Canonical Allele Identifier: CA342649173

Gene: EFNA1

Linked Data

• dbSNP Id: rs1355475807
• gnomAD v4: 1-155133775-C-T
• MyVariant Identifiers: chr1:g.155106251C>T (hg19) ; chr1:g.155133775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133775C>T , CM000663.2:g.155133775C>T	GRCh38
NC_000001.10:g.155106251C>T , CM000663.1:g.155106251C>T	GRCh37
NC_000001.9:g.153372875C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.500C>T MANE Select	ENSP00000357392.3:p.Ala167Val
ENST00000368406.2:c.434C>T	ENSP00000357391.2:p.Ala145Val
ENST00000368407.7:c.500C>T	ENSP00000357392.3:p.Ala167Val
ENST00000469878.5:n.751C>T
ENST00000474413.5:n.725C>T
ENST00000497282.1:n.543C>T
NM_004428.2:c.500C>T	NP_004419.2:p.Ala167Val
NM_182685.1:c.434C>T	NP_872626.1:p.Ala145Val
XM_005244940.3:c.311C>T	XP_005244997.1:p.Ala104Val
NM_004428.3:c.500C>T MANE Select	NP_004419.2:p.Ala167Val
NM_182685.2:c.434C>T	NP_872626.1:p.Ala145Val