Canonical Allele Identifier: CA351005736

Gene: CHRND

Linked Data

• dbSNP Id: rs1324359874
• gnomAD v2: 2-233399012-T-G
• gnomAD v3: 2-232534302-T-G
• gnomAD v4: 2-232534302-T-G
• MyVariant Identifiers: chr2:g.233399012T>G (hg19) ; chr2:g.232534302T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534302T>G , CM000664.2:g.232534302T>G	GRCh38
NC_000002.11:g.233399012T>G , CM000664.1:g.233399012T>G	GRCh37
NC_000002.10:g.233107256T>G	NCBI36
NG_008028.1:g.13091T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1331T>G MANE Select	ENSP00000258385.3:p.Phe444Cys
ENST00000258385.7:c.1331T>G	ENSP00000258385.3:p.Phe444Cys
ENST00000441621.6:c.*513T>G	ENSP00000408819.2:n.*513T>G
ENST00000446616.1:c.*972T>G	ENSP00000410801.1:n.*972T>G
ENST00000543200.5:c.1286T>G	ENSP00000438380.1:p.Phe429Cys
NM_000751.2:c.1331T>G	NP_000742.1:p.Phe444Cys
NM_001256657.1:c.1286T>G	NP_001243586.1:p.Phe429Cys
NM_001311195.1:c.749T>G	NP_001298124.1:p.Phe250Cys
NM_001311196.1:c.1028T>G	NP_001298125.1:p.Phe343Cys
NR_046333.1:c.-4294966220T>G
NR_046334.1:c.-4294965941T>G
XM_011510524.1:c.950T>G	XP_011508826.1:p.Phe317Cys
XM_011510524.2:c.950T>G	XP_011508826.1:p.Phe317Cys
NM_000751.3:c.1331T>G MANE Select	NP_000742.1:p.Phe444Cys
NM_001311195.2:c.749T>G	NP_001298124.1:p.Phe250Cys
NM_001311196.2:c.1028T>G	NP_001298125.1:p.Phe343Cys
NM_001256657.2:c.1286T>G	NP_001243586.1:p.Phe429Cys