Canonical Allele Identifier: CA11782337

Gene: SCARB2

Linked Data

• dbSNP Id: rs4241591
• gnomAD v2: 4-77121346-A-G
• gnomAD v3: 4-76200193-A-G
• gnomAD v4: 4-76200193-A-G
• MyVariant Identifiers: chr4:g.77121346A>G (hg19) ; chr4:g.76200193A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76200193A>G , CM000666.2:g.76200193A>G	GRCh38
NC_000004.11:g.77121346A>G , CM000666.1:g.77121346A>G	GRCh37
NC_000004.10:g.77340370A>G	NCBI36
NG_012054.1:g.18690T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264896.8:c.118-4329T>C MANE Select	ENSP00000264896.2:n.118-4329T>C
ENST00000502908.2:n.371-4329T>C
ENST00000509994.2:c.118-4329T>C	ENSP00000420988.1:n.118-4329T>C
ENST00000638295.1:c.-357-4329T>C	ENSP00000492288.1:n.-357-4329T>C
ENST00000638372.1:n.370-4329T>C
ENST00000638567.1:n.401-4329T>C
ENST00000638603.1:c.118-4329T>C	ENSP00000491728.1:n.118-4329T>C
ENST00000638663.1:c.118-4329T>C	ENSP00000491407.1:n.118-4329T>C
ENST00000638680.1:n.451-4329T>C
ENST00000639145.1:c.118-4329T>C	ENSP00000492831.1:n.118-4329T>C
ENST00000639300.1:c.118-4329T>C	ENSP00000492840.1:n.118-4329T>C
ENST00000639324.1:n.217-4329T>C
ENST00000639715.1:c.83-4329T>C
ENST00000639738.1:c.118-4329T>C	ENSP00000491792.1:n.118-4329T>C
ENST00000640341.1:c.118-4329T>C	ENSP00000492714.1:n.118-4329T>C
ENST00000640634.1:c.95-4329T>C
ENST00000640640.1:c.118-4329T>C	ENSP00000492246.1:n.118-4329T>C
ENST00000640916.1:n.46-4329T>C
ENST00000640957.1:c.118-4329T>C	ENSP00000492004.1:n.118-4329T>C
ENST00000264896.6:c.118-4329T>C	ENSP00000264896.2:n.118-4329T>C
ENST00000452464.6:c.118-4329T>C	ENSP00000399154.2:n.118-4329T>C
ENST00000509994.1:c.118-4329T>C	ENSP00000420988.1:n.118-4329T>C
NM_001204255.1:c.118-4329T>C	NP_001191184.1:n.118-4329T>C
NM_005506.3:c.118-4329T>C	NP_005497.1:n.118-4329T>C
NM_005506.4:c.118-4329T>C MANE Select	NP_005497.1:n.118-4329T>C
NM_001204255.2:c.118-4329T>C	NP_001191184.1:n.118-4329T>C