Canonical Allele Identifier: CA15228001
Gene: EPHB1 HGNC NCBI

Linked Data

dbSNP Id: rs3821502
gnomAD v2: 3-134912567-A-G
gnomAD v3: 3-135193725-A-G
gnomAD v4: 3-135193725-A-G
MyVariant Identifiers: chr3:g.134912567A>G (hg19) chr3:g.135193725A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.135193725A>G , CM000665.2:g.135193725A>G GRCh38
NC_000003.11:g.134912567A>G , CM000665.1:g.134912567A>G GRCh37
NC_000003.10:g.136395257A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000398015.8:c.2130+902A>G MANE Select ENSP00000381097.3:n.2130+902A>G
ENST00000647596.1:c.2130+902A>G ENSP00000497153.1:n.2130+902A>G
ENST00000398015.7:c.2130+902A>G ENSP00000381097.3:n.2130+902A>G
ENST00000493838.1:c.813+902A>G ENSP00000419574.1:n.813+902A>G
NM_004441.4:c.2130+902A>G NP_004432.1:n.2130+902A>G
XM_011512540.1:c.2112+902A>G XP_011510842.1:n.2112+902A>G
XM_011512541.1:c.2064+902A>G XP_011510843.1:n.2064+902A>G
XM_011512542.1:c.360+902A>G XP_011510844.1:n.360+902A>G
XM_017005866.2:c.2292+902A>G XP_016861355.1:n.2292+902A>G
XM_017005867.1:c.2274+902A>G XP_016861356.1:n.2274+902A>G
XM_024453389.1:c.2226+902A>G XP_024309157.1:n.2226+902A>G
XM_024453390.1:c.2226+902A>G XP_024309158.1:n.2226+902A>G
NM_004441.5:c.2130+902A>G MANE Select NP_004432.1:n.2130+902A>G
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