Canonical Allele Identifier: CA342649099

Gene: EFNA1

Linked Data

• dbSNP Id: rs1238889558
• gnomAD v2: 1-155106243-G-C
• gnomAD v4: 1-155133767-G-C
• MyVariant Identifiers: chr1:g.155106243G>C (hg19) ; chr1:g.155133767G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133767G>C , CM000663.2:g.155133767G>C	GRCh38
NC_000001.10:g.155106243G>C , CM000663.1:g.155106243G>C	GRCh37
NC_000001.9:g.153372867G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.492G>C MANE Select	ENSP00000357392.3:p.Lys164Asn
ENST00000368406.2:c.426G>C	ENSP00000357391.2:p.Lys142Asn
ENST00000368407.7:c.492G>C	ENSP00000357392.3:p.Lys164Asn
ENST00000469878.5:n.743G>C
ENST00000474413.5:n.717G>C
ENST00000497282.1:n.535G>C
NM_004428.2:c.492G>C	NP_004419.2:p.Lys164Asn
NM_182685.1:c.426G>C	NP_872626.1:p.Lys142Asn
XM_005244940.3:c.303G>C	XP_005244997.1:p.Lys101Asn
NM_004428.3:c.492G>C MANE Select	NP_004419.2:p.Lys164Asn
NM_182685.2:c.426G>C	NP_872626.1:p.Lys142Asn