Canonical Allele Identifier: CA1335314112

Gene: CHRND

Linked Data

• dbSNP Id: rs1691815180
• gnomAD v4: 2-232534348-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534348G>A , CM000664.2:g.232534348G>A	GRCh38
NC_000002.11:g.233399058G>A , CM000664.1:g.233399058G>A	GRCh37
NC_000002.10:g.233107302G>A	NCBI36
NG_008028.1:g.13137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1371+6G>A MANE Select	ENSP00000258385.3:n.1371+6G>A
ENST00000258385.7:c.1371+6G>A	ENSP00000258385.3:n.1371+6G>A
ENST00000441621.6:c.*553+6G>A	ENSP00000408819.2:n.*553+6G>A
ENST00000446616.1:c.*1012+6G>A	ENSP00000410801.1:n.*1012+6G>A
ENST00000543200.5:c.1326+6G>A	ENSP00000438380.1:n.1326+6G>A
NM_000751.2:c.1371+6G>A	NP_000742.1:n.1371+6G>A
NM_001256657.1:c.1326+6G>A	NP_001243586.1:n.1326+6G>A
NM_001311195.1:c.789+6G>A	NP_001298124.1:n.789+6G>A
NM_001311196.1:c.1068+6G>A	NP_001298125.1:n.1068+6G>A
NR_046333.1:c.-4294966180+6G>A
NR_046334.1:c.-4294965901+6G>A
XM_011510524.1:c.990+6G>A	XP_011508826.1:n.990+6G>A
XM_011510524.2:c.990+6G>A	XP_011508826.1:n.990+6G>A
NM_000751.3:c.1371+6G>A MANE Select	NP_000742.1:n.1371+6G>A
NM_001311195.2:c.789+6G>A	NP_001298124.1:n.789+6G>A
NM_001311196.2:c.1068+6G>A	NP_001298125.1:n.1068+6G>A
NM_001256657.2:c.1326+6G>A	NP_001243586.1:n.1326+6G>A