LDH info

Canonical Allele Identifier: CA345308
Gene: CFTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 53423
dbSNP Id: rs397508328

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117480095A>G , CM000669.2:g.117480095A>G GRCh38
NC_000007.13:g.117120149A>G , CM000669.1:g.117120149A>G GRCh37
NC_000007.12:g.116907385A>G NCBI36
NG_016465.4:g.19312A>G , LRG_663:g.19312A>G

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.1A>G , LRG_663t1:c.1A>G
XM_011515751.1:c.143+750A>G XP_011514053.1:p.=
XM_011515752.1:c.143+750A>G XP_011514054.1:p.=
XM_011515753.1:c.-191+401A>G XP_011514055.1:p.=
XM_011515754.1:c.-518-53A>G XP_011514056.1:p.=
NM_000492.4:c.1A>G VV MANE Preferred
ENST00000003084.10:c.1A>G
ENST00000426809.5:n.1A>G
ENST00000446805.1:c.-191+401A>G ENSP00000417012.1:p.=
ENST00000546407.1:n.166+4287A>G