Canonical Allele Identifier: CA526421400

Gene: EFNA1

Linked Data

• dbSNP Id: rs1158283233
• gnomAD v2: 1-155106183-C-G
• gnomAD v4: 1-155133707-C-G
• MyVariant Identifiers: chr1:g.155106183C>G (hg19) ; chr1:g.155133707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133707C>G , CM000663.2:g.155133707C>G	GRCh38
NC_000001.10:g.155106183C>G , CM000663.1:g.155106183C>G	GRCh37
NC_000001.9:g.153372807C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.455-23C>G MANE Select	ENSP00000357392.3:n.455-23C>G
ENST00000368406.2:c.389-23C>G	ENSP00000357391.2:n.389-23C>G
ENST00000368407.7:c.455-23C>G	ENSP00000357392.3:n.455-23C>G
ENST00000469878.5:n.683C>G
ENST00000474413.5:n.680-23C>G
ENST00000497282.1:n.498-23C>G
NM_004428.2:c.455-23C>G	NP_004419.2:n.455-23C>G
NM_182685.1:c.389-23C>G	NP_872626.1:n.389-23C>G
XM_005244940.3:c.266-23C>G	XP_005244997.1:n.266-23C>G
NM_004428.3:c.455-23C>G MANE Select	NP_004419.2:n.455-23C>G
NM_182685.2:c.389-23C>G	NP_872626.1:n.389-23C>G