Canonical Allele Identifier: CA11483261
Gene: EPHB1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.134796494T>G
GRCh37 chr3:g.134515336T>G
gnomAD v2:
3:134515336 T / G
gnomAD v3:
3:134796494 T / G
gnomAD v4:
chr3-134796494-T-G
Joint Max Group AF 0.88173172 (NFE)
Genomes Max Group AF 0.88171173 (NFE)
Exomes Max Group AF 0.62209702 (NFE)
dbSNP:
3732568
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.134796494T>G , CM000665.2:g.134796494T>G GRCh38
NC_000003.11:g.134515336T>G , CM000665.1:g.134515336T>G GRCh37
NC_000003.10:g.135998026T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398015.8:c.58+805T>G MANE Select ENSP00000381097.3:n.58+805T>G
ENST00000647596.1:c.58+805T>G ENSP00000497153.1:n.58+805T>G
ENST00000398015.7:c.58+805T>G ENSP00000381097.3:n.58+805T>G
ENST00000460895.5:c.-9+16613T>G ENSP00000417435.1:n.-9+16613T>G
ENST00000482618.5:c.58+805T>G ENSP00000420338.1:n.58+805T>G
ENST00000488154.5:n.58+805T>G
ENST00000497173.5:c.-9+101T>G ENSP00000419688.1:n.-9+101T>G
NM_004441.4:c.58+805T>G NP_004432.1:n.58+805T>G
XM_017005866.2:c.58+805T>G XP_016861355.1:n.58+805T>G
XM_024453389.1:c.-9+16613T>G XP_024309157.1:n.-9+16613T>G
XM_024453390.1:c.-9+16613T>G XP_024309158.1:n.-9+16613T>G
NM_004441.5:c.58+805T>G MANE Select NP_004432.1:n.58+805T>G
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