Canonical Allele Identifier: CA381701381

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435577-A-G
• MyVariant Identifiers: chr11:g.71146623A>G (hg19) ; chr11:g.71435577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435577A>G , CM000673.2:g.71435577A>G	GRCh38
NC_000011.9:g.71146623A>G , CM000673.1:g.71146623A>G	GRCh37
NC_000011.8:g.70824271A>G	NCBI36
NG_012655.2:g.17855T>C , LRG_340:g.17855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1226T>C	ENSP00000435707.3:p.Val409Ala
ENST00000526780.6:c.1226T>C	ENSP00000435668.2:p.Val409Ala
ENST00000527316.6:c.1052T>C	ENSP00000435047.2:p.Val351Ala
ENST00000682708.1:c.1277T>C	ENSP00000506866.1:p.Val426Ala
ENST00000683287.1:c.1262T>C	ENSP00000507607.1:p.Val421Ala
ENST00000683714.1:c.1234T>C	ENSP00000508207.1:p.Ser412Pro
ENST00000684396.1:n.1266T>C
ENST00000685320.1:c.641T>C	ENSP00000509319.1:p.Val214Ala
ENST00000690257.1:c.1130T>C	ENSP00000510750.1:p.Val377Ala
ENST00000355527.8:c.1226T>C MANE Select	ENSP00000347717.4:p.Val409Ala
ENST00000355527.7:c.1226T>C	ENSP00000347717.3:p.Val409Ala
ENST00000407721.6:c.1226T>C	ENSP00000384739.2:p.Val409Ala
ENST00000525137.1:c.727T>C	ENSP00000435956.1:p.Ser243Pro
ENST00000533800.5:c.476T>C	ENSP00000435011.1:p.Val159Ala
ENST00000534795.5:c.319+2235T>C
NM_001163817.1:c.1226T>C	NP_001157289.1:p.Val409Ala
NM_001360.2:c.1226T>C , LRG_340t1:c.1226T>C	NP_001351.2:p.Val409Ala
XM_011544777.1:c.1360T>C	XP_011543079.1:p.Ser454Pro
XM_011544777.2:c.1360T>C	XP_011543079.1:p.Ser454Pro
NM_001163817.2:c.1226T>C	NP_001157289.1:p.Val409Ala
NM_001360.3:c.1226T>C MANE Select	NP_001351.2:p.Val409Ala