Canonical Allele Identifier: CA2577278157

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534220-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534220G>C , CM000664.2:g.232534220G>C	GRCh38
NC_000002.11:g.233398930G>C , CM000664.1:g.233398930G>C	GRCh37
NC_000002.10:g.233107174G>C	NCBI36
NG_008028.1:g.13009G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1253-4G>C MANE Select	ENSP00000258385.3:n.1253-4G>C
ENST00000258385.7:c.1253-4G>C	ENSP00000258385.3:n.1253-4G>C
ENST00000441621.6:c.*435-4G>C	ENSP00000408819.2:n.*435-4G>C
ENST00000446616.1:c.*894-4G>C	ENSP00000410801.1:n.*894-4G>C
ENST00000543200.5:c.1208-4G>C	ENSP00000438380.1:n.1208-4G>C
NM_000751.2:c.1253-4G>C	NP_000742.1:n.1253-4G>C
NM_001256657.1:c.1208-4G>C	NP_001243586.1:n.1208-4G>C
NM_001311195.1:c.671-4G>C	NP_001298124.1:n.671-4G>C
NM_001311196.1:c.950-4G>C	NP_001298125.1:n.950-4G>C
NR_046333.1:c.-4294966298-4G>C
NR_046334.1:c.-4294966019-4G>C
XM_011510524.1:c.872-4G>C	XP_011508826.1:n.872-4G>C
XM_011510524.2:c.872-4G>C	XP_011508826.1:n.872-4G>C
NM_000751.3:c.1253-4G>C MANE Select	NP_000742.1:n.1253-4G>C
NM_001311195.2:c.671-4G>C	NP_001298124.1:n.671-4G>C
NM_001311196.2:c.950-4G>C	NP_001298125.1:n.950-4G>C
NM_001256657.2:c.1208-4G>C	NP_001243586.1:n.1208-4G>C