Canonical Allele Identifier: CA2087467
Community Standard Title: NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys)
Gene: ERBB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.211387000G>A , CM000664.2:g.211387000G>A GRCh38
NC_000002.11:g.212251725G>A , CM000664.1:g.212251725G>A GRCh37
NC_000002.10:g.211959970G>A NCBI36
NG_011805.1:g.1156628C>T
NG_011805.2:g.1156629C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005235.3:c.3334C>T MANE Select NP_005226.1:p.Arg1112Cys
ENST00000342788.9:c.3334C>T MANE Select ENSP00000342235.4:p.Arg1112Cys
NM_001042599.1:c.3286C>T NP_001036064.1:p.Arg1096Cys
NM_005235.2:c.3334C>T NP_005226.1:p.Arg1112Cys
ENST00000260943.11:c.3256C>T ENSP00000260943.7:p.Arg1086Cys
ENST00000342788.8:c.3334C>T ENSP00000342235.4:p.Arg1112Cys
ENST00000402597.5:c.3157C>T ENSP00000385565.2:p.Arg1053Cys
ENST00000402597.6:c.3208C>T ENSP00000385565.3:p.Arg1070Cys
ENST00000436443.5:c.3286C>T ENSP00000403204.1:p.Arg1096Cys
XM_005246375.1:c.3331C>T XP_005246432.1:p.Arg1111Cys
XM_005246376.1:c.3304C>T XP_005246433.1:p.Arg1102Cys
XM_005246376.3:c.3304C>T XP_005246433.1:p.Arg1102Cys
XM_005246377.1:c.3256C>T XP_005246434.1:p.Arg1086Cys
XM_005246377.3:c.3256C>T XP_005246434.1:p.Arg1086Cys
XM_006712364.1:c.3379C>T XP_006712427.1:p.Arg1127Cys
XM_006712364.3:c.3379C>T XP_006712427.1:p.Arg1127Cys
XM_017003577.2:c.3457C>T XP_016859066.1:p.Arg1153Cys
XM_017003578.2:c.3412C>T XP_016859067.1:p.Arg1138Cys
XM_017003579.2:c.3409C>T XP_016859068.1:p.Arg1137Cys
XM_017003580.2:c.3382C>T XP_016859069.1:p.Arg1128Cys
XM_017003581.2:c.3364C>T XP_016859070.1:p.Arg1122Cys
XM_017003582.1:c.2758C>T XP_016859071.1:p.Arg920Cys