Canonical Allele Identifier: CA11800363
Gene: SCARB2 HGNC NCBI

Linked Data

dbSNP Id: rs17234715
gnomAD v2: 4-77130934-T-C
gnomAD v3: 4-76209781-T-C
gnomAD v4: 4-76209781-T-C
MyVariant Identifiers: chr4:g.77130934T>C (hg19) chr4:g.76209781T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76209781T>C , CM000666.2:g.76209781T>C GRCh38
NC_000004.11:g.77130934T>C , CM000666.1:g.77130934T>C GRCh37
NC_000004.10:g.77349958T>C NCBI36
NG_012054.1:g.9102A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264896.8:c.117+3646A>G MANE Select ENSP00000264896.2:n.117+3646A>G
ENST00000502908.2:n.370+3646A>G
ENST00000509994.2:c.117+3646A>G ENSP00000420988.1:n.117+3646A>G
ENST00000638295.1:c.-357-13917A>G ENSP00000492288.1:n.-357-13917A>G
ENST00000638372.1:n.369+3646A>G
ENST00000638567.1:n.400+3646A>G
ENST00000638603.1:c.117+3646A>G ENSP00000491728.1:n.117+3646A>G
ENST00000638663.1:c.117+3646A>G ENSP00000491407.1:n.117+3646A>G
ENST00000638680.1:n.450+3646A>G
ENST00000639145.1:c.117+3646A>G ENSP00000492831.1:n.117+3646A>G
ENST00000639300.1:c.117+3646A>G ENSP00000492840.1:n.117+3646A>G
ENST00000639324.1:n.216+3342A>G
ENST00000639715.1:c.82+3646A>G
ENST00000639738.1:c.117+3646A>G ENSP00000491792.1:n.117+3646A>G
ENST00000640341.1:c.117+3646A>G ENSP00000492714.1:n.117+3646A>G
ENST00000640634.1:c.94+3646A>G
ENST00000640640.1:c.117+3646A>G ENSP00000492246.1:n.117+3646A>G
ENST00000640916.1:n.45+3646A>G
ENST00000640957.1:c.117+3646A>G ENSP00000492004.1:n.117+3646A>G
ENST00000264896.6:c.117+3646A>G ENSP00000264896.2:n.117+3646A>G
ENST00000452464.6:c.117+3646A>G ENSP00000399154.2:n.117+3646A>G
ENST00000509994.1:c.117+3646A>G ENSP00000420988.1:n.117+3646A>G
NM_001204255.1:c.117+3646A>G NP_001191184.1:n.117+3646A>G
NM_005506.3:c.117+3646A>G NP_005497.1:n.117+3646A>G
NM_005506.4:c.117+3646A>G MANE Select NP_005497.1:n.117+3646A>G
NM_001204255.2:c.117+3646A>G NP_001191184.1:n.117+3646A>G
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