Canonical Allele Identifier: CA65137695

Gene: ERBB4

Linked Data

• dbSNP Id: rs1006268515
• gnomAD v2: 2-212241913-C-G
• gnomAD v3: 2-211377188-C-G
• gnomAD v4: 2-211377188-C-G
• MyVariant Identifiers: chr2:g.212241913C>G (hg19) ; chr2:g.211377188C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.211377188C>G , CM000664.2:g.211377188C>G	GRCh38
NC_000002.11:g.212241913C>G , CM000664.1:g.212241913C>G	GRCh37
NC_000002.10:g.211950158C>G	NCBI36
NG_011805.1:g.1166440G>C
NG_011805.2:g.1166441G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342788.9:c.*6427G>C MANE Select	ENSP00000342235.4:n.*6427G>C
ENST00000402597.6:c.10228G>C	ENSP00000385565.3:n.10228G>C
ENST00000342788.8:c.*6427G>C	ENSP00000342235.4:n.*6427G>C
ENST00000402597.5:c.*6427G>C	ENSP00000385565.2:n.*6427G>C
ENST00000436443.5:c.*6427G>C	ENSP00000403204.1:n.*6427G>C
NM_001042599.1:c.*6427G>C	NP_001036064.1:n.*6427G>C
NM_005235.2:c.*6427G>C	NP_005226.1:n.*6427G>C
XM_005246375.1:c.*6427G>C	XP_005246432.1:n.*6427G>C
XM_005246376.1:c.*6427G>C	XP_005246433.1:n.*6427G>C
XM_005246377.1:c.*6427G>C	XP_005246434.1:n.*6427G>C
XM_006712364.1:c.*6427G>C	XP_006712427.1:n.*6427G>C
XM_005246376.3:c.*6427G>C	XP_005246433.1:n.*6427G>C
XM_005246377.3:c.*6427G>C	XP_005246434.1:n.*6427G>C
XM_006712364.3:c.*6427G>C	XP_006712427.1:n.*6427G>C
XM_017003577.2:c.*6427G>C	XP_016859066.1:n.*6427G>C
XM_017003578.2:c.*6427G>C	XP_016859067.1:n.*6427G>C
XM_017003579.2:c.*6427G>C	XP_016859068.1:n.*6427G>C
XM_017003580.2:c.*6427G>C	XP_016859069.1:n.*6427G>C
XM_017003581.2:c.*6427G>C	XP_016859070.1:n.*6427G>C
XM_017003582.1:c.*6427G>C	XP_016859071.1:n.*6427G>C
NM_005235.3:c.*6427G>C MANE Select	NP_005226.1:n.*6427G>C