Canonical Allele Identifier: CA16602255
Gene: ERBB4 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.211713583C>T , CM000664.2:g.211713583C>T GRCh38
NC_000002.11:g.212578308C>T , CM000664.1:g.212578308C>T GRCh37
NC_000002.10:g.212286553C>T NCBI36
NG_011805.1:g.830045G>A
NG_011805.2:g.830046G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260943.11:c.949G>A ENSP00000260943.7:p.Glu317Lys
ENST00000342788.9:c.949G>A MANE Select ENSP00000342235.4:p.Glu317Lys
ENST00000402597.6:c.871G>A ENSP00000385565.3:p.Glu291Lys
ENST00000260943.10:c.948G>A
ENST00000342788.8:c.949G>A ENSP00000342235.4:p.Glu317Lys
ENST00000402597.5:c.772G>A ENSP00000385565.2:p.Glu258Lys
ENST00000436443.5:c.949G>A ENSP00000403204.1:p.Glu317Lys
ENST00000484594.5:n.1001G>A
NM_001042599.1:c.949G>A NP_001036064.1:p.Glu317Lys
NM_005235.2:c.949G>A NP_005226.1:p.Glu317Lys
XM_005246375.1:c.949G>A XP_005246432.1:p.Glu317Lys
XM_005246376.1:c.949G>A XP_005246433.1:p.Glu317Lys
XM_005246377.1:c.949G>A XP_005246434.1:p.Glu317Lys
XM_006712364.1:c.949G>A XP_006712427.1:p.Glu317Lys
XM_005246376.3:c.949G>A XP_005246433.1:p.Glu317Lys
XM_005246377.3:c.949G>A XP_005246434.1:p.Glu317Lys
XM_006712364.3:c.949G>A XP_006712427.1:p.Glu317Lys
XM_017003577.2:c.1027G>A XP_016859066.1:p.Glu343Lys
XM_017003578.2:c.1027G>A XP_016859067.1:p.Glu343Lys
XM_017003579.2:c.1027G>A XP_016859068.1:p.Glu343Lys
XM_017003580.2:c.1027G>A XP_016859069.1:p.Glu343Lys
XM_017003581.2:c.1027G>A XP_016859070.1:p.Glu343Lys
XM_017003582.1:c.328G>A XP_016859071.1:p.Glu110Lys
NM_005235.3:c.949G>A MANE Select NP_005226.1:p.Glu317Lys