Canonical Allele Identifier: CA381701406

Gene: DHCR7

Linked Data

• gnomAD v4: 11-71435582-G-A
• MyVariant Identifiers: chr11:g.71146628G>A (hg19) ; chr11:g.71435582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435582G>A , CM000673.2:g.71435582G>A	GRCh38
NC_000011.9:g.71146628G>A , CM000673.1:g.71146628G>A	GRCh37
NC_000011.8:g.70824276G>A	NCBI36
NG_012655.2:g.17850C>T , LRG_340:g.17850C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1221C>T	ENSP00000435707.3:p.Asn407=
ENST00000526780.6:c.1221C>T	ENSP00000435668.2:p.Asn407=
ENST00000527316.6:c.1047C>T	ENSP00000435047.2:p.Asn349=
ENST00000682708.1:c.1272C>T	ENSP00000506866.1:p.Asn424=
ENST00000683287.1:c.1257C>T	ENSP00000507607.1:p.Asn419=
ENST00000683714.1:c.1229C>T	ENSP00000508207.1:p.Thr410Ile
ENST00000684396.1:n.1261C>T
ENST00000685320.1:c.636C>T	ENSP00000509319.1:p.Asn212=
ENST00000690257.1:c.1125C>T	ENSP00000510750.1:p.Asn375=
ENST00000355527.8:c.1221C>T MANE Select	ENSP00000347717.4:p.Asn407=
ENST00000355527.7:c.1221C>T	ENSP00000347717.3:p.Asn407=
ENST00000407721.6:c.1221C>T	ENSP00000384739.2:p.Asn407=
ENST00000525137.1:c.722C>T	ENSP00000435956.1:p.Thr241Ile
ENST00000533800.5:c.471C>T	ENSP00000435011.1:p.Asn157=
ENST00000534795.5:c.319+2230C>T
NM_001163817.1:c.1221C>T	NP_001157289.1:p.Asn407=
NM_001360.2:c.1221C>T , LRG_340t1:c.1221C>T	NP_001351.2:p.Asn407=
XM_011544777.1:c.1355C>T	XP_011543079.1:p.Thr452Ile
XM_011544777.2:c.1355C>T	XP_011543079.1:p.Thr452Ile
NM_001163817.2:c.1221C>T	NP_001157289.1:p.Asn407=
NM_001360.3:c.1221C>T MANE Select	NP_001351.2:p.Asn407=