Canonical Allele Identifier: CA216502

Gene: ERBB4

Linked Data

• ClinVar Variation Id: 64626
• ClinVar RCV Id: RCV000054813 ; RCV000074383
• dbSNP Id: rs397514263
• ExAC: 2:212248444 G / A
• gnomAD v2: 2-212248444-G-A
• gnomAD v3: 2-211383719-G-A
• gnomAD v4: 2-211383719-G-A
• MyVariant Identifiers: chr2:g.212248444G>A (hg19) ; chr2:g.211383719G>A (hg38)
• PubMed: PMID:24119685

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.211383719G>A , CM000664.2:g.211383719G>A	GRCh38
NC_000002.11:g.212248444G>A , CM000664.1:g.212248444G>A	GRCh37
NC_000002.10:g.211956689G>A	NCBI36
NG_011805.1:g.1159909C>T
NG_011805.2:g.1159910C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260943.11:c.3745C>T	ENSP00000260943.7:p.Arg1249Trp
ENST00000342788.9:c.3823C>T MANE Select	ENSP00000342235.4:p.Arg1275Trp
ENST00000402597.6:c.3697C>T	ENSP00000385565.3:p.Arg1233Trp
ENST00000342788.8:c.3823C>T	ENSP00000342235.4:p.Arg1275Trp
ENST00000402597.5:c.3646C>T	ENSP00000385565.2:p.Arg1216Trp
ENST00000436443.5:c.3775C>T	ENSP00000403204.1:p.Arg1259Trp
NM_001042599.1:c.3775C>T	NP_001036064.1:p.Arg1259Trp
NM_005235.2:c.3823C>T	NP_005226.1:p.Arg1275Trp
XM_005246375.1:c.3820C>T	XP_005246432.1:p.Arg1274Trp
XM_005246376.1:c.3793C>T	XP_005246433.1:p.Arg1265Trp
XM_005246377.1:c.3745C>T	XP_005246434.1:p.Arg1249Trp
XM_006712364.1:c.3868C>T	XP_006712427.1:p.Arg1290Trp
XM_005246376.3:c.3793C>T	XP_005246433.1:p.Arg1265Trp
XM_005246377.3:c.3745C>T	XP_005246434.1:p.Arg1249Trp
XM_006712364.3:c.3868C>T	XP_006712427.1:p.Arg1290Trp
XM_017003577.2:c.3946C>T	XP_016859066.1:p.Arg1316Trp
XM_017003578.2:c.3901C>T	XP_016859067.1:p.Arg1301Trp
XM_017003579.2:c.3898C>T	XP_016859068.1:p.Arg1300Trp
XM_017003580.2:c.3871C>T	XP_016859069.1:p.Arg1291Trp
XM_017003581.2:c.3853C>T	XP_016859070.1:p.Arg1285Trp
XM_017003582.1:c.3247C>T	XP_016859071.1:p.Arg1083Trp
NM_005235.3:c.3823C>T MANE Select	NP_005226.1:p.Arg1275Trp