Canonical Allele Identifier: CA351005188

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534060-C-T
• MyVariant Identifiers: chr2:g.233398770C>T (hg19) ; chr2:g.232534060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534060C>T , CM000664.2:g.232534060C>T	GRCh38
NC_000002.11:g.233398770C>T , CM000664.1:g.233398770C>T	GRCh37
NC_000002.10:g.233107014C>T	NCBI36
NG_008028.1:g.12849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1177C>T MANE Select	ENSP00000258385.3:p.Leu393Phe
ENST00000258385.7:c.1177C>T	ENSP00000258385.3:p.Leu393Phe
ENST00000441621.6:c.*359C>T	ENSP00000408819.2:n.*359C>T
ENST00000446616.1:c.*818C>T	ENSP00000410801.1:n.*818C>T
ENST00000543200.5:c.1132C>T	ENSP00000438380.1:p.Leu378Phe
NM_000751.2:c.1177C>T	NP_000742.1:p.Leu393Phe
NM_001256657.1:c.1132C>T	NP_001243586.1:p.Leu378Phe
NM_001311195.1:c.595C>T	NP_001298124.1:p.Leu199Phe
NM_001311196.1:c.874C>T	NP_001298125.1:p.Leu292Phe
NR_046333.1:c.-4294966374C>T
NR_046334.1:c.-4294966095C>T
XM_011510524.1:c.796C>T	XP_011508826.1:p.Leu266Phe
XM_011510524.2:c.796C>T	XP_011508826.1:p.Leu266Phe
NM_000751.3:c.1177C>T MANE Select	NP_000742.1:p.Leu393Phe
NM_001311195.2:c.595C>T	NP_001298124.1:p.Leu199Phe
NM_001311196.2:c.874C>T	NP_001298125.1:p.Leu292Phe
NM_001256657.2:c.1132C>T	NP_001243586.1:p.Leu378Phe