Canonical Allele Identifier: CA371334100

Gene: CYP7B1

Linked Data

• MyVariant Identifiers: chr8:g.65517292C>G (hg19) ; chr8:g.64604735C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64604735C>G , CM000670.2:g.64604735C>G	GRCh38
NC_000008.10:g.65517292C>G , CM000670.1:g.65517292C>G	GRCh37
NC_000008.9:g.65679846C>G	NCBI36
NG_008338.1:g.199057G>C
NG_008338.2:g.199057G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310193.4:c.1180G>C MANE Select	ENSP00000310721.3:p.Ala394Pro
ENST00000310193.3:c.1180G>C	ENSP00000310721.3:p.Ala394Pro
ENST00000523954.1:n.454G>C
NM_004820.3:c.1180G>C	NP_004811.1:p.Ala394Pro
NM_001324112.1:c.1180G>C	NP_001311041.1:p.Ala394Pro
NM_004820.4:c.1180G>C	NP_004811.1:p.Ala394Pro
XM_017014002.1:c.1246G>C	XP_016869491.1:p.Ala416Pro
NM_004820.5:c.1180G>C MANE Select	NP_004811.1:p.Ala394Pro
NM_001324112.2:c.1180G>C	NP_001311041.1:p.Ala394Pro