Canonical Allele Identifier: CA350442618
Community Standard Title: NM_005235.3(ERBB4):c.1289+1G>C
Gene: ERBB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.211704103C>G , CM000664.2:g.211704103C>G GRCh38
NC_000002.11:g.212568828C>G , CM000664.1:g.212568828C>G GRCh37
NC_000002.10:g.212277073C>G NCBI36
NG_011805.1:g.839525G>C
NG_011805.2:g.839526G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005235.3:c.1289+1G>C MANE Select NP_005226.1:n.1289+1G>C
ENST00000342788.9:c.1289+1G>C MANE Select ENSP00000342235.4:n.1289+1G>C
NM_001042599.1:c.1289+1G>C NP_001036064.1:n.1289+1G>C
NM_005235.2:c.1289+1G>C NP_005226.1:n.1289+1G>C
ENST00000260943.10:c.1288+1G>C
ENST00000260943.11:c.1289+1G>C ENSP00000260943.7:n.1289+1G>C
ENST00000342788.8:c.1289+1G>C ENSP00000342235.4:n.1289+1G>C
ENST00000402597.5:c.1112+1G>C ENSP00000385565.2:n.1112+1G>C
ENST00000402597.6:c.1211+1G>C ENSP00000385565.3:n.1211+1G>C
ENST00000436443.5:c.1289+1G>C ENSP00000403204.1:n.1289+1G>C
ENST00000484594.5:n.1341+1G>C
XM_005246375.1:c.1289+1G>C XP_005246432.1:n.1289+1G>C
XM_005246376.1:c.1289+1G>C XP_005246433.1:n.1289+1G>C
XM_005246376.3:c.1289+1G>C XP_005246433.1:n.1289+1G>C
XM_005246377.1:c.1289+1G>C XP_005246434.1:n.1289+1G>C
XM_005246377.3:c.1289+1G>C XP_005246434.1:n.1289+1G>C
XM_006712364.1:c.1289+1G>C XP_006712427.1:n.1289+1G>C
XM_006712364.3:c.1289+1G>C XP_006712427.1:n.1289+1G>C
XM_017003577.2:c.1367+1G>C XP_016859066.1:n.1367+1G>C
XM_017003578.2:c.1367+1G>C XP_016859067.1:n.1367+1G>C
XM_017003579.2:c.1367+1G>C XP_016859068.1:n.1367+1G>C
XM_017003580.2:c.1367+1G>C XP_016859069.1:n.1367+1G>C
XM_017003581.2:c.1367+1G>C XP_016859070.1:n.1367+1G>C
XM_017003582.1:c.668+1G>C XP_016859071.1:n.668+1G>C