Canonical Allele Identifier: CA2087401
Community Standard Title: NM_005235.3(ERBB4):c.3547T>C (p.Leu1183=)
Gene: ERBB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.211383995A>G , CM000664.2:g.211383995A>G GRCh38
NC_000002.11:g.212248720A>G , CM000664.1:g.212248720A>G GRCh37
NC_000002.10:g.211956965A>G NCBI36
NG_011805.1:g.1159633T>C
NG_011805.2:g.1159634T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005235.3:c.3547T>C MANE Select NP_005226.1:p.Leu1183=
ENST00000342788.9:c.3547T>C MANE Select ENSP00000342235.4:p.Leu1183=
NM_001042599.1:c.3499T>C NP_001036064.1:p.Leu1167=
NM_005235.2:c.3547T>C NP_005226.1:p.Leu1183=
ENST00000260943.11:c.3469T>C ENSP00000260943.7:p.Leu1157=
ENST00000342788.8:c.3547T>C ENSP00000342235.4:p.Leu1183=
ENST00000402597.5:c.3370T>C ENSP00000385565.2:p.Leu1124=
ENST00000402597.6:c.3421T>C ENSP00000385565.3:p.Leu1141=
ENST00000436443.5:c.3499T>C ENSP00000403204.1:p.Leu1167=
XM_005246375.1:c.3544T>C XP_005246432.1:p.Leu1182=
XM_005246376.1:c.3517T>C XP_005246433.1:p.Leu1173=
XM_005246376.3:c.3517T>C XP_005246433.1:p.Leu1173=
XM_005246377.1:c.3469T>C XP_005246434.1:p.Leu1157=
XM_005246377.3:c.3469T>C XP_005246434.1:p.Leu1157=
XM_006712364.1:c.3592T>C XP_006712427.1:p.Leu1198=
XM_006712364.3:c.3592T>C XP_006712427.1:p.Leu1198=
XM_017003577.2:c.3670T>C XP_016859066.1:p.Leu1224=
XM_017003578.2:c.3625T>C XP_016859067.1:p.Leu1209=
XM_017003579.2:c.3622T>C XP_016859068.1:p.Leu1208=
XM_017003580.2:c.3595T>C XP_016859069.1:p.Leu1199=
XM_017003581.2:c.3577T>C XP_016859070.1:p.Leu1193=
XM_017003582.1:c.2971T>C XP_016859071.1:p.Leu991=