Canonical Allele Identifier: CA66957485

Gene: CHRND

Linked Data

• dbSNP Id: rs369358776
• gnomAD v3: 2-232534067-C-T
• gnomAD v4: 2-232534067-C-T
• MyVariant Identifiers: chr2:g.233398777C>T (hg19) ; chr2:g.232534067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534067C>T , CM000664.2:g.232534067C>T	GRCh38
NC_000002.11:g.233398777C>T , CM000664.1:g.233398777C>T	GRCh37
NC_000002.10:g.233107021C>T	NCBI36
NG_008028.1:g.12856C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1184C>T MANE Select	ENSP00000258385.3:p.Ser395Phe
ENST00000258385.7:c.1184C>T	ENSP00000258385.3:p.Ser395Phe
ENST00000441621.6:c.*366C>T	ENSP00000408819.2:n.*366C>T
ENST00000446616.1:c.*825C>T	ENSP00000410801.1:n.*825C>T
ENST00000543200.5:c.1139C>T	ENSP00000438380.1:p.Ser380Phe
NM_000751.2:c.1184C>T	NP_000742.1:p.Ser395Phe
NM_001256657.1:c.1139C>T	NP_001243586.1:p.Ser380Phe
NM_001311195.1:c.602C>T	NP_001298124.1:p.Ser201Phe
NM_001311196.1:c.881C>T	NP_001298125.1:p.Ser294Phe
NR_046333.1:c.-4294966367C>T
NR_046334.1:c.-4294966088C>T
XM_011510524.1:c.803C>T	XP_011508826.1:p.Ser268Phe
XM_011510524.2:c.803C>T	XP_011508826.1:p.Ser268Phe
NM_000751.3:c.1184C>T MANE Select	NP_000742.1:p.Ser395Phe
NM_001311195.2:c.602C>T	NP_001298124.1:p.Ser201Phe
NM_001311196.2:c.881C>T	NP_001298125.1:p.Ser294Phe
NM_001256657.2:c.1139C>T	NP_001243586.1:p.Ser380Phe