Canonical Allele Identifier: CA1043468075

Gene: CHRND

Linked Data

• dbSNP Id: rs12466358
• gnomAD v3: 2-232532815-T-A
• gnomAD v4: 2-232532815-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232532815T>A , CM000664.2:g.232532815T>A	GRCh38
NC_000002.11:g.233397525T>A , CM000664.1:g.233397525T>A	GRCh37
NC_000002.10:g.233105769T>A	NCBI36
NG_008028.1:g.11604T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1048-1116T>A MANE Select	ENSP00000258385.3:n.1048-1116T>A
ENST00000258385.7:c.1048-1116T>A	ENSP00000258385.3:n.1048-1116T>A
ENST00000441621.6:c.*230-1116T>A	ENSP00000408819.2:n.*230-1116T>A
ENST00000446616.1:c.*689-1116T>A	ENSP00000410801.1:n.*689-1116T>A
ENST00000543200.5:c.1003-1116T>A	ENSP00000438380.1:n.1003-1116T>A
NM_000751.2:c.1048-1116T>A	NP_000742.1:n.1048-1116T>A
NM_001256657.1:c.1003-1116T>A	NP_001243586.1:n.1003-1116T>A
NM_001311195.1:c.466-1116T>A	NP_001298124.1:n.466-1116T>A
NM_001311196.1:c.745-1116T>A	NP_001298125.1:n.745-1116T>A
NR_046333.1:c.-4294966503-1116T>A
NR_046334.1:c.-4294966224-1116T>A
XM_011510524.1:c.667-1116T>A	XP_011508826.1:n.667-1116T>A
XM_011510524.2:c.667-1116T>A	XP_011508826.1:n.667-1116T>A
NM_000751.3:c.1048-1116T>A MANE Select	NP_000742.1:n.1048-1116T>A
NM_001311195.2:c.466-1116T>A	NP_001298124.1:n.466-1116T>A
NM_001311196.2:c.745-1116T>A	NP_001298125.1:n.745-1116T>A
NM_001256657.2:c.1003-1116T>A	NP_001243586.1:n.1003-1116T>A