Canonical Allele Identifier: CA12812313
Gene: CYP7A1 HGNC NCBI

Linked Data

dbSNP Id: rs8192870
gnomAD v2: 8-59412066-T-G
gnomAD v3: 8-58499507-T-G
gnomAD v4: 8-58499507-T-G
MyVariant Identifiers: chr8:g.59412066T>G (hg19) chr8:g.58499507T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58499507T>G , CM000670.2:g.58499507T>G GRCh38
NC_000008.10:g.59412066T>G , CM000670.1:g.59412066T>G GRCh37
NC_000008.9:g.59574620T>G NCBI36
NG_007969.1:g.5656A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301645.4:c.80+512A>C MANE Select ENSP00000301645.3:n.80+512A>C
ENST00000301645.3:c.80+512A>C ENSP00000301645.3:n.80+512A>C
NM_000780.3:c.80+512A>C NP_000771.2:n.80+512A>C
XM_011517476.1:c.80+512A>C XP_011515778.1:n.80+512A>C
NM_000780.4:c.80+512A>C MANE Select NP_000771.2:n.80+512A>C
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