LDH info

Canonical Allele Identifier: CA325603
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7217
dbSNP Id: rs74503330

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642472G>A , CM000669.2:g.117642472G>A GRCh38
NC_000007.13:g.117282526G>A , CM000669.1:g.117282526G>A GRCh37
NC_000007.12:g.117069762G>A NCBI36
NG_016465.4:g.181689G>A , LRG_663:g.181689G>A

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3752G>A , LRG_663t1:c.3752G>A NP_000483.3:p.Ser1251Asn
XM_011515751.1:c.3842G>A XP_011514053.1:p.Ser1281Asn
XM_011515752.1:c.3842G>A XP_011514054.1:p.Ser1281Asn
XM_011515753.1:c.3509G>A XP_011514055.1:p.Ser1170Asn
XM_011515754.1:c.3509G>A XP_011514056.1:p.Ser1170Asn
NM_000492.4:c.3752G>A VV MANE Preferred NP_000483.3:p.Ser1251Asn
ENST00000003084.10:c.3752G>A ENSP00000003084.6:p.Ser1251Asn
ENST00000426809.5:n.3662G>A ENSP00000389119.1:p.Ser1221Asn