Canonical Allele Identifier: CA371335577

Gene: CYP7B1

Linked Data

• gnomAD v4: 8-64616027-T-C
• MyVariant Identifiers: chr8:g.65528584T>C (hg19) ; chr8:g.64616027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.64616027T>C , CM000670.2:g.64616027T>C	GRCh38
NC_000008.10:g.65528584T>C , CM000670.1:g.65528584T>C	GRCh37
NC_000008.9:g.65691138T>C	NCBI36
NG_008338.1:g.187765A>G
NG_008338.2:g.187765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310193.4:c.514A>G MANE Select	ENSP00000310721.3:p.Thr172Ala
ENST00000310193.3:c.514A>G	ENSP00000310721.3:p.Thr172Ala
NM_004820.3:c.514A>G	NP_004811.1:p.Thr172Ala
NM_001324112.1:c.514A>G	NP_001311041.1:p.Thr172Ala
NM_004820.4:c.514A>G	NP_004811.1:p.Thr172Ala
XM_017014002.1:c.580A>G	XP_016869491.1:p.Thr194Ala
NM_004820.5:c.514A>G MANE Select	NP_004811.1:p.Thr172Ala
NM_001324112.2:c.514A>G	NP_001311041.1:p.Thr172Ala