Canonical Allele Identifier: CA216500

Gene: ERBB4

Linked Data

• ClinVar Variation Id: 64625
• ClinVar RCV Id: RCV000054812 ; RCV000074382
• dbSNP Id: rs397514262
• ExAC: 2:212288966 C / T
• gnomAD v2: 2-212288966-C-T
• gnomAD v3: 2-211424241-C-T
• gnomAD v4: 2-211424241-C-T
• COSMIC: COSM4090866 ; COSM4090867
• MyVariant Identifiers: chr2:g.212288966C>T (hg19) ; chr2:g.211424241C>T (hg38)
• PubMed: PMID:24119685

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.211424241C>T , CM000664.2:g.211424241C>T	GRCh38
NC_000002.11:g.212288966C>T , CM000664.1:g.212288966C>T	GRCh37
NC_000002.10:g.211997211C>T	NCBI36
NG_011805.1:g.1119387G>A
NG_011805.2:g.1119388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260943.11:c.2750G>A	ENSP00000260943.7:p.Arg917Gln
ENST00000342788.9:c.2780G>A MANE Select	ENSP00000342235.4:p.Arg927Gln
ENST00000402597.6:c.2702G>A	ENSP00000385565.3:p.Arg901Gln
ENST00000342788.8:c.2780G>A	ENSP00000342235.4:p.Arg927Gln
ENST00000402597.5:c.2603G>A	ENSP00000385565.2:p.Arg868Gln
ENST00000436443.5:c.2780G>A	ENSP00000403204.1:p.Arg927Gln
NM_001042599.1:c.2780G>A	NP_001036064.1:p.Arg927Gln
NM_005235.2:c.2780G>A	NP_005226.1:p.Arg927Gln
XM_005246375.1:c.2825G>A	XP_005246432.1:p.Arg942Gln
XM_005246376.1:c.2750G>A	XP_005246433.1:p.Arg917Gln
XM_005246377.1:c.2750G>A	XP_005246434.1:p.Arg917Gln
XM_006712364.1:c.2825G>A	XP_006712427.1:p.Arg942Gln
XM_005246376.3:c.2750G>A	XP_005246433.1:p.Arg917Gln
XM_005246377.3:c.2750G>A	XP_005246434.1:p.Arg917Gln
XM_006712364.3:c.2825G>A	XP_006712427.1:p.Arg942Gln
XM_017003577.2:c.2903G>A	XP_016859066.1:p.Arg968Gln
XM_017003578.2:c.2858G>A	XP_016859067.1:p.Arg953Gln
XM_017003579.2:c.2903G>A	XP_016859068.1:p.Arg968Gln
XM_017003580.2:c.2828G>A	XP_016859069.1:p.Arg943Gln
XM_017003581.2:c.2858G>A	XP_016859070.1:p.Arg953Gln
XM_017003582.1:c.2204G>A	XP_016859071.1:p.Arg735Gln
NM_005235.3:c.2780G>A MANE Select	NP_005226.1:p.Arg927Gln