Canonical Allele Identifier: CA388848347

Gene: CHAMP1

Linked Data

• dbSNP Id: rs1270395429
• gnomAD v3: 13-114325122-C-T
• gnomAD v4: 13-114325122-C-T
• MyVariant Identifiers: chr13:g.115090597C>T (hg19) ; chr13:g.114325122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.114325122C>T , CM000675.2:g.114325122C>T	GRCh38
NC_000013.10:g.115090597C>T , CM000675.1:g.115090597C>T	GRCh37
NC_000013.9:g.114108699C>T	NCBI36
NG_051829.1:g.15788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643483.2:c.1280C>T	ENSP00000496699.1:p.Ser427Phe
ENST00000644294.2:c.1280C>T	ENSP00000495985.2:p.Ser427Phe
ENST00000645174.2:c.1280C>T	ENSP00000494031.2:p.Ser427Phe
ENST00000700527.1:c.1280C>T	ENSP00000515032.1:p.Ser427Phe
ENST00000700528.1:c.1280C>T	ENSP00000515033.1:p.Ser427Phe
ENST00000361283.4:c.1280C>T MANE Select	ENSP00000354730.1:p.Ser427Phe
ENST00000643483.1:c.1280C>T	ENSP00000496699.1:p.Ser427Phe
ENST00000646155.1:n.123+10479C>T
ENST00000646956.1:n.285+3890C>T
ENST00000361283.2:c.1280C>T	ENSP00000354730.1:p.Ser427Phe
NM_001164144.1:c.1280C>T	NP_001157616.1:p.Ser427Phe
NM_001164145.1:c.1280C>T	NP_001157617.1:p.Ser427Phe
NM_032436.2:c.1280C>T	NP_115812.1:p.Ser427Phe
NM_001164144.2:c.1280C>T	NP_001157616.1:p.Ser427Phe
NM_001164145.2:c.1280C>T	NP_001157617.1:p.Ser427Phe
NM_032436.3:c.1280C>T	NP_115812.1:p.Ser427Phe
NM_032436.4:c.1280C>T MANE Select	NP_115812.1:p.Ser427Phe
NM_001164144.3:c.1280C>T	NP_001157616.1:p.Ser427Phe
NM_001164145.3:c.1280C>T	NP_001157617.1:p.Ser427Phe