LDH info

Canonical Allele Identifier: CA273032
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 161998
ClinVar RCV Id: RCV000149423
dbSNP Id: rs556880586

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117542016G>A , CM000669.2:g.117542016G>A GRCh38
NC_000007.13:g.117182070G>A , CM000669.1:g.117182070G>A GRCh37
NC_000007.12:g.116969306G>A NCBI36
NG_016465.4:g.81233G>A , LRG_663:g.81233G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1117G>A , LRG_663t1:c.1117G>A NP_000483.3:p.Asp373Asn
XM_011515751.1:c.1207G>A XP_011514053.1:p.Asp403Asn
XM_011515752.1:c.1207G>A XP_011514054.1:p.Asp403Asn
XM_011515753.1:c.874G>A XP_011514055.1:p.Asp292Asn
XM_011515754.1:c.874G>A XP_011514056.1:p.Asp292Asn
ENST00000003084.10:c.1117G>A ENSP00000003084.6:p.Asp373Asn
ENST00000426809.5:n.1027G>A ENSP00000389119.1:p.Asp343Asn