Canonical Allele Identifier: CA351005175

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534054-T-A
• MyVariant Identifiers: chr2:g.233398764T>A (hg19) ; chr2:g.232534054T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534054T>A , CM000664.2:g.232534054T>A	GRCh38
NC_000002.11:g.233398764T>A , CM000664.1:g.233398764T>A	GRCh37
NC_000002.10:g.233107008T>A	NCBI36
NG_008028.1:g.12843T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1171T>A MANE Select	ENSP00000258385.3:p.Phe391Ile
ENST00000258385.7:c.1171T>A	ENSP00000258385.3:p.Phe391Ile
ENST00000441621.6:c.*353T>A	ENSP00000408819.2:n.*353T>A
ENST00000446616.1:c.*812T>A	ENSP00000410801.1:n.*812T>A
ENST00000543200.5:c.1126T>A	ENSP00000438380.1:p.Phe376Ile
NM_000751.2:c.1171T>A	NP_000742.1:p.Phe391Ile
NM_001256657.1:c.1126T>A	NP_001243586.1:p.Phe376Ile
NM_001311195.1:c.589T>A	NP_001298124.1:p.Phe197Ile
NM_001311196.1:c.868T>A	NP_001298125.1:p.Phe290Ile
NR_046333.1:c.-4294966380T>A
NR_046334.1:c.-4294966101T>A
XM_011510524.1:c.790T>A	XP_011508826.1:p.Phe264Ile
XM_011510524.2:c.790T>A	XP_011508826.1:p.Phe264Ile
NM_000751.3:c.1171T>A MANE Select	NP_000742.1:p.Phe391Ile
NM_001311195.2:c.589T>A	NP_001298124.1:p.Phe197Ile
NM_001311196.2:c.868T>A	NP_001298125.1:p.Phe290Ile
NM_001256657.2:c.1126T>A	NP_001243586.1:p.Phe376Ile