Canonical Allele Identifier: CA342649102

Gene: EFNA1

Linked Data

• MyVariant Identifiers: chr1:g.155106243G>T (hg19) ; chr1:g.155133767G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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