Canonical Allele Identifier: CA6162542
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 554967
dbSNP Id: rs769218623

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71441332A>G , CM000673.2:g.71441332A>G GRCh38
NC_000011.9:g.71152378A>G , CM000673.1:g.71152378A>G GRCh37
NC_000011.8:g.70830026A>G NCBI36
NG_012655.2:g.12100T>C , LRG_340:g.12100T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.521T>C ENSP00000435707.3:p.Phe174Ser
ENST00000526780.6:c.521T>C ENSP00000435668.2:p.Phe174Ser
ENST00000527316.6:c.347T>C ENSP00000435047.2:p.Phe116Ser
ENST00000682708.1:c.521T>C ENSP00000506866.1:p.Phe174Ser
ENST00000682880.1:c.521T>C ENSP00000507520.1:p.Phe174Ser
ENST00000683287.1:c.557T>C ENSP00000507607.1:p.Phe186Ser
ENST00000683714.1:c.521T>C ENSP00000508207.1:p.Phe174Ser
ENST00000683874.1:n.798T>C
ENST00000685320.1:c.-65T>C ENSP00000509319.1:n.-65T>C
ENST00000690257.1:c.425T>C ENSP00000510750.1:p.Phe142Ser
ENST00000355527.8:c.521T>C MANE Select ENSP00000347717.4:p.Phe174Ser
ENST00000355527.7:c.521T>C ENSP00000347717.3:p.Phe174Ser
ENST00000407721.6:c.521T>C ENSP00000384739.2:p.Phe174Ser
ENST00000527316.5:c.425T>C ENSP00000435047.1:p.Phe142Ser
ENST00000534701.1:n.16T>C
NM_001163817.1:c.521T>C NP_001157289.1:p.Phe174Ser
NM_001360.2:c.521T>C , LRG_340t1:c.521T>C NP_001351.2:p.Phe174Ser
XM_011544777.1:c.521T>C XP_011543079.1:p.Phe174Ser
XM_011544777.2:c.521T>C XP_011543079.1:p.Phe174Ser
NM_001163817.2:c.521T>C NP_001157289.1:p.Phe174Ser
NM_001360.3:c.521T>C MANE Select NP_001351.2:p.Phe174Ser