Canonical Allele Identifier: CA342649010

Gene: EFNA1

Linked Data

• MyVariant Identifiers: chr1:g.155106233C>A (hg19) ; chr1:g.155133757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133757C>A , CM000663.2:g.155133757C>A	GRCh38
NC_000001.10:g.155106233C>A , CM000663.1:g.155106233C>A	GRCh37
NC_000001.9:g.153372857C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.482C>A MANE Select	ENSP00000357392.3:p.Pro161Gln
ENST00000368406.2:c.416C>A	ENSP00000357391.2:p.Pro139Gln
ENST00000368407.7:c.482C>A	ENSP00000357392.3:p.Pro161Gln
ENST00000469878.5:n.733C>A
ENST00000474413.5:n.707C>A
ENST00000497282.1:n.525C>A
NM_004428.2:c.482C>A	NP_004419.2:p.Pro161Gln
NM_182685.1:c.416C>A	NP_872626.1:p.Pro139Gln
XM_005244940.3:c.293C>A	XP_005244997.1:p.Pro98Gln
NM_004428.3:c.482C>A MANE Select	NP_004419.2:p.Pro161Gln
NM_182685.2:c.416C>A	NP_872626.1:p.Pro139Gln