Canonical Allele Identifier: CA371334090
Gene: CYP7B1 HGNC NCBI

Linked Data

gnomAD v4: 8-64604731-A-C
MyVariant Identifiers: chr8:g.65517288A>C (hg19) chr8:g.64604731A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.64604731A>C , CM000670.2:g.64604731A>C GRCh38
NC_000008.10:g.65517288A>C , CM000670.1:g.65517288A>C GRCh37
NC_000008.9:g.65679842A>C NCBI36
NG_008338.1:g.199061T>G
NG_008338.2:g.199061T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000310193.4:c.1184T>G MANE Select ENSP00000310721.3:p.Ile395Ser
ENST00000310193.3:c.1184T>G ENSP00000310721.3:p.Ile395Ser
ENST00000523954.1:n.458T>G
NM_004820.3:c.1184T>G NP_004811.1:p.Ile395Ser
NM_001324112.1:c.1184T>G NP_001311041.1:p.Ile395Ser
NM_004820.4:c.1184T>G NP_004811.1:p.Ile395Ser
XM_017014002.1:c.1250T>G XP_016869491.1:p.Ile417Ser
NM_004820.5:c.1184T>G MANE Select NP_004811.1:p.Ile395Ser
NM_001324112.2:c.1184T>G NP_001311041.1:p.Ile395Ser
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