Canonical Allele Identifier: CA381702436

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146837C>G (hg19) ; chr11:g.71435791C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435791C>G , CM000673.2:g.71435791C>G	GRCh38
NC_000011.9:g.71146837C>G , CM000673.1:g.71146837C>G	GRCh37
NC_000011.8:g.70824485C>G	NCBI36
NG_012655.2:g.17641G>C , LRG_340:g.17641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1012G>C	ENSP00000435707.3:p.Val338Leu
ENST00000526780.6:c.1012G>C	ENSP00000435668.2:p.Val338Leu
ENST00000527316.6:c.838G>C	ENSP00000435047.2:p.Val280Leu
ENST00000682708.1:c.1063G>C	ENSP00000506866.1:p.Val355Leu
ENST00000683287.1:c.1048G>C	ENSP00000507607.1:p.Val350Leu
ENST00000683714.1:c.1020G>C	ENSP00000508207.1:p.Pro340=
ENST00000684396.1:n.1052G>C
ENST00000685320.1:c.427G>C	ENSP00000509319.1:p.Val143Leu
ENST00000690257.1:c.916G>C	ENSP00000510750.1:p.Val306Leu
ENST00000355527.8:c.1012G>C MANE Select	ENSP00000347717.4:p.Val338Leu
ENST00000355527.7:c.1012G>C	ENSP00000347717.3:p.Val338Leu
ENST00000407721.6:c.1012G>C	ENSP00000384739.2:p.Val338Leu
ENST00000525137.1:c.513G>C	ENSP00000435956.1:p.Pro171=
ENST00000533800.5:c.262G>C	ENSP00000435011.1:p.Val88Leu
ENST00000534795.5:c.319+2021G>C
NM_001163817.1:c.1012G>C	NP_001157289.1:p.Val338Leu
NM_001360.2:c.1012G>C , LRG_340t1:c.1012G>C	NP_001351.2:p.Val338Leu
XM_011544777.1:c.1146G>C	XP_011543079.1:p.Pro382=
XM_011544777.2:c.1146G>C	XP_011543079.1:p.Pro382=
NM_001163817.2:c.1012G>C	NP_001157289.1:p.Val338Leu
NM_001360.3:c.1012G>C MANE Select	NP_001351.2:p.Val338Leu