Canonical Allele Identifier: CA420983426
Gene: EFNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.155106043C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155133567C>T , CM000663.2:g.155133567C>T GRCh38
NC_000001.10:g.155106043C>T , CM000663.1:g.155106043C>T GRCh37
NC_000001.9:g.153372667C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368407.8:c.453C>T MANE Select ENSP00000357392.3:p.Ile151=
ENST00000368406.2:c.389-163C>T ENSP00000357391.2:n.389-163C>T
ENST00000368407.7:c.453C>T ENSP00000357392.3:p.Ile151=
ENST00000469878.5:n.543C>T
ENST00000474413.5:n.678C>T
ENST00000497282.1:n.496C>T
NM_004428.2:c.453C>T NP_004419.2:p.Ile151=
NM_182685.1:c.389-163C>T NP_872626.1:n.389-163C>T
XM_005244940.3:c.264C>T XP_005244997.1:p.Ile88=
NM_004428.3:c.453C>T MANE Select NP_004419.2:p.Ile151=
NM_182685.2:c.389-163C>T NP_872626.1:n.389-163C>T