Canonical Allele Identifier: CA381701426

Gene: DHCR7

Linked Data

• ClinVar Variation Id: 938032
• ClinVar RCV Id: RCV001207177 ; RCV001819896 ; RCV002509629
• dbSNP Id: rs1949268068
• gnomAD v4: 11-71435585-G-C
• MyVariant Identifiers: chr11:g.71146631G>C (hg19) ; chr11:g.71435585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435585G>C , CM000673.2:g.71435585G>C	GRCh38
NC_000011.9:g.71146631G>C , CM000673.1:g.71146631G>C	GRCh37
NC_000011.8:g.70824279G>C	NCBI36
NG_012655.2:g.17847C>G , LRG_340:g.17847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1218C>G	ENSP00000435707.3:p.Phe406Leu
ENST00000526780.6:c.1218C>G	ENSP00000435668.2:p.Phe406Leu
ENST00000527316.6:c.1044C>G	ENSP00000435047.2:p.Phe348Leu
ENST00000682708.1:c.1269C>G	ENSP00000506866.1:p.Phe423Leu
ENST00000683287.1:c.1254C>G	ENSP00000507607.1:p.Phe418Leu
ENST00000683714.1:c.1226C>G	ENSP00000508207.1:p.Ser409Ter
ENST00000684396.1:n.1258C>G
ENST00000685320.1:c.633C>G	ENSP00000509319.1:p.Phe211Leu
ENST00000690257.1:c.1122C>G	ENSP00000510750.1:p.Phe374Leu
ENST00000355527.8:c.1218C>G MANE Select	ENSP00000347717.4:p.Phe406Leu
ENST00000355527.7:c.1218C>G	ENSP00000347717.3:p.Phe406Leu
ENST00000407721.6:c.1218C>G	ENSP00000384739.2:p.Phe406Leu
ENST00000525137.1:c.719C>G	ENSP00000435956.1:p.Ser240Ter
ENST00000533800.5:c.468C>G	ENSP00000435011.1:p.Phe156Leu
ENST00000534795.5:c.319+2227C>G
NM_001163817.1:c.1218C>G	NP_001157289.1:p.Phe406Leu
NM_001360.2:c.1218C>G , LRG_340t1:c.1218C>G	NP_001351.2:p.Phe406Leu
XM_011544777.1:c.1352C>G	XP_011543079.1:p.Ser451Ter
XM_011544777.2:c.1352C>G	XP_011543079.1:p.Ser451Ter
NM_001163817.2:c.1218C>G	NP_001157289.1:p.Phe406Leu
NM_001360.3:c.1218C>G MANE Select	NP_001351.2:p.Phe406Leu