Canonical Allele Identifier: CA381701279

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435554-C-A
• MyVariant Identifiers: chr11:g.71146600C>A (hg19) ; chr11:g.71435554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435554C>A , CM000673.2:g.71435554C>A	GRCh38
NC_000011.9:g.71146600C>A , CM000673.1:g.71146600C>A	GRCh37
NC_000011.8:g.70824248C>A	NCBI36
NG_012655.2:g.17878G>T , LRG_340:g.17878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1249G>T	ENSP00000435707.3:p.Ala417Ser
ENST00000526780.6:c.1249G>T	ENSP00000435668.2:p.Ala417Ser
ENST00000527316.6:c.1075G>T	ENSP00000435047.2:p.Ala359Ser
ENST00000682708.1:c.1300G>T	ENSP00000506866.1:p.Ala434Ser
ENST00000683287.1:c.1285G>T	ENSP00000507607.1:p.Ala429Ser
ENST00000683714.1:c.*12G>T	ENSP00000508207.1:n.*12G>T
ENST00000684396.1:n.1289G>T
ENST00000685320.1:c.664G>T	ENSP00000509319.1:p.Ala222Ser
ENST00000690257.1:c.1153G>T	ENSP00000510750.1:p.Ala385Ser
ENST00000355527.8:c.1249G>T MANE Select	ENSP00000347717.4:p.Ala417Ser
ENST00000355527.7:c.1249G>T	ENSP00000347717.3:p.Ala417Ser
ENST00000407721.6:c.1249G>T	ENSP00000384739.2:p.Ala417Ser
ENST00000525137.1:c.750G>T	ENSP00000435956.1:n.750G>T
ENST00000533800.5:c.499G>T	ENSP00000435011.1:p.Ala167Ser
ENST00000534795.5:c.319+2258G>T
NM_001163817.1:c.1249G>T	NP_001157289.1:p.Ala417Ser
NM_001360.2:c.1249G>T , LRG_340t1:c.1249G>T	NP_001351.2:p.Ala417Ser
XM_011544777.1:c.*12G>T	XP_011543079.1:n.*12G>T
XM_011544777.2:c.*12G>T	XP_011543079.1:n.*12G>T
NM_001163817.2:c.1249G>T	NP_001157289.1:p.Ala417Ser
NM_001360.3:c.1249G>T MANE Select	NP_001351.2:p.Ala417Ser