Canonical Allele Identifier: CA66957675

Gene: CHRND

Linked Data

• dbSNP Id: rs1016592553
• gnomAD v2: 2-233398942-C-A
• gnomAD v3: 2-232534232-C-A
• gnomAD v4: 2-232534232-C-A
• MyVariant Identifiers: chr2:g.233398942C>A (hg19) ; chr2:g.232534232C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534232C>A , CM000664.2:g.232534232C>A	GRCh38
NC_000002.11:g.233398942C>A , CM000664.1:g.233398942C>A	GRCh37
NC_000002.10:g.233107186C>A	NCBI36
NG_008028.1:g.13021C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1261C>A MANE Select	ENSP00000258385.3:p.Pro421Thr
ENST00000258385.7:c.1261C>A	ENSP00000258385.3:p.Pro421Thr
ENST00000441621.6:c.*443C>A	ENSP00000408819.2:n.*443C>A
ENST00000446616.1:c.*902C>A	ENSP00000410801.1:n.*902C>A
ENST00000543200.5:c.1216C>A	ENSP00000438380.1:p.Pro406Thr
NM_000751.2:c.1261C>A	NP_000742.1:p.Pro421Thr
NM_001256657.1:c.1216C>A	NP_001243586.1:p.Pro406Thr
NM_001311195.1:c.679C>A	NP_001298124.1:p.Pro227Thr
NM_001311196.1:c.958C>A	NP_001298125.1:p.Pro320Thr
NR_046333.1:c.-4294966290C>A
NR_046334.1:c.-4294966011C>A
XM_011510524.1:c.880C>A	XP_011508826.1:p.Pro294Thr
XM_011510524.2:c.880C>A	XP_011508826.1:p.Pro294Thr
NM_000751.3:c.1261C>A MANE Select	NP_000742.1:p.Pro421Thr
NM_001311195.2:c.679C>A	NP_001298124.1:p.Pro227Thr
NM_001311196.2:c.958C>A	NP_001298125.1:p.Pro320Thr
NM_001256657.2:c.1216C>A	NP_001243586.1:p.Pro406Thr