Canonical Allele Identifier: CA475519650

Gene: DHCR7

Linked Data

• dbSNP Id: rs1253900157
• gnomAD v2: 11-71153357-G-A
• gnomAD v4: 11-71442311-G-A
• MyVariant Identifiers: chr11:g.71153357G>A (hg19) ; chr11:g.71442311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71442311G>A , CM000673.2:g.71442311G>A	GRCh38
NC_000011.9:g.71153357G>A , CM000673.1:g.71153357G>A	GRCh37
NC_000011.8:g.70831005G>A	NCBI36
NG_012655.2:g.11121C>T , LRG_340:g.11121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.364C>T	ENSP00000435707.3:p.Leu122=
ENST00000526780.6:c.364C>T	ENSP00000435668.2:p.Leu122=
ENST00000527316.6:c.190C>T	ENSP00000435047.2:p.Leu64=
ENST00000682708.1:c.364C>T	ENSP00000506866.1:p.Leu122=
ENST00000682880.1:c.364C>T	ENSP00000507520.1:p.Leu122=
ENST00000683287.1:c.400C>T	ENSP00000507607.1:p.Leu134=
ENST00000683714.1:c.364C>T	ENSP00000508207.1:p.Leu122=
ENST00000683874.1:n.641C>T
ENST00000685320.1:c.-222C>T	ENSP00000509319.1:n.-222C>T
ENST00000690257.1:c.268C>T	ENSP00000510750.1:p.Leu90=
ENST00000355527.8:c.364C>T MANE Select	ENSP00000347717.4:p.Leu122=
ENST00000355527.7:c.364C>T	ENSP00000347717.3:p.Leu122=
ENST00000407721.6:c.364C>T	ENSP00000384739.2:p.Leu122=
ENST00000526780.5:c.364C>T	ENSP00000435668.1:p.Leu122=
ENST00000527316.5:c.268C>T	ENSP00000435047.1:p.Leu90=
NM_001163817.1:c.364C>T	NP_001157289.1:p.Leu122=
NM_001360.2:c.364C>T , LRG_340t1:c.364C>T	NP_001351.2:p.Leu122=
XM_011544777.1:c.364C>T	XP_011543079.1:p.Leu122=
XM_011544777.2:c.364C>T	XP_011543079.1:p.Leu122=
NM_001163817.2:c.364C>T	NP_001157289.1:p.Leu122=
NM_001360.3:c.364C>T MANE Select	NP_001351.2:p.Leu122=