Canonical Allele Identifier: CA371335769
Gene: CYP7B1 HGNC NCBI

Linked Data

dbSNP Id: rs753992733
gnomAD v2: 8-65528668-A-G
gnomAD v3: 8-64616111-A-G
gnomAD v4: 8-64616111-A-G
MyVariant Identifiers: chr8:g.65528668A>G (hg19) chr8:g.64616111A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64616111A>G , CM000670.2:g.64616111A>G GRCh38
NC_000008.10:g.65528668A>G , CM000670.1:g.65528668A>G GRCh37
NC_000008.9:g.65691222A>G NCBI36
NG_008338.1:g.187681T>C
NG_008338.2:g.187681T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000310193.4:c.430T>C MANE Select ENSP00000310721.3:p.Phe144Leu
ENST00000310193.3:c.430T>C ENSP00000310721.3:p.Phe144Leu
NM_004820.3:c.430T>C NP_004811.1:p.Phe144Leu
NM_001324112.1:c.430T>C NP_001311041.1:p.Phe144Leu
NM_004820.4:c.430T>C NP_004811.1:p.Phe144Leu
XM_017014002.1:c.496T>C XP_016869491.1:p.Phe166Leu
NM_004820.5:c.430T>C MANE Select NP_004811.1:p.Phe144Leu
NM_001324112.2:c.430T>C NP_001311041.1:p.Phe144Leu
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