Canonical Allele Identifier: CA30859528

Gene: EFNA1

Linked Data

• dbSNP Id: rs558318083
• gnomAD v2: 1-155106136-G-C
• gnomAD v3: 1-155133660-G-C
• gnomAD v4: 1-155133660-G-C
• MyVariant Identifiers: chr1:g.155106136G>C (hg19) ; chr1:g.155133660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133660G>C , CM000663.2:g.155133660G>C	GRCh38
NC_000001.10:g.155106136G>C , CM000663.1:g.155106136G>C	GRCh37
NC_000001.9:g.153372760G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368407.8:c.455-70G>C MANE Select	ENSP00000357392.3:n.455-70G>C
ENST00000368406.2:c.389-70G>C	ENSP00000357391.2:n.389-70G>C
ENST00000368407.7:c.455-70G>C	ENSP00000357392.3:n.455-70G>C
ENST00000469878.5:n.636G>C
ENST00000474413.5:n.680-70G>C
ENST00000497282.1:n.498-70G>C
NM_004428.2:c.455-70G>C	NP_004419.2:n.455-70G>C
NM_182685.1:c.389-70G>C	NP_872626.1:n.389-70G>C
XM_005244940.3:c.266-70G>C	XP_005244997.1:n.266-70G>C
NM_004428.3:c.455-70G>C MANE Select	NP_004419.2:n.455-70G>C
NM_182685.2:c.389-70G>C	NP_872626.1:n.389-70G>C