Canonical Allele Identifier: CA99844416

Gene: SCARB2

Linked Data

• dbSNP Id: rs6825004
• gnomAD v2: 4-77110365-C-A
• gnomAD v3: 4-76189212-C-A
• gnomAD v4: 4-76189212-C-A
• MyVariant Identifiers: chr4:g.77110365C>A (hg19) ; chr4:g.76189212C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.76189212C>A , CM000666.2:g.76189212C>A	GRCh38
NC_000004.11:g.77110365C>A , CM000666.1:g.77110365C>A	GRCh37
NC_000004.10:g.77329389C>A	NCBI36
NG_012054.1:g.29671G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682785.1:n.251+6495G>T
ENST00000264896.8:c.275+6495G>T MANE Select	ENSP00000264896.2:n.275+6495G>T
ENST00000502908.2:n.528+6495G>T
ENST00000509994.2:c.276-4432G>T	ENSP00000420988.1:n.276-4432G>T
ENST00000638295.1:c.-200+6495G>T	ENSP00000492288.1:n.-200+6495G>T
ENST00000638372.1:n.527+6495G>T
ENST00000638603.1:c.275+6495G>T	ENSP00000491728.1:n.275+6495G>T
ENST00000638663.1:c.275+6495G>T	ENSP00000491407.1:n.275+6495G>T
ENST00000638680.1:n.608+6495G>T
ENST00000639145.1:c.275+6495G>T	ENSP00000492831.1:n.275+6495G>T
ENST00000639300.1:c.275+6495G>T	ENSP00000492840.1:n.275+6495G>T
ENST00000639324.1:n.374+6495G>T
ENST00000639715.1:c.240+6495G>T
ENST00000639738.1:c.275+6495G>T	ENSP00000491792.1:n.275+6495G>T
ENST00000640341.1:c.275+6495G>T	ENSP00000492714.1:n.275+6495G>T
ENST00000640634.1:c.252+6495G>T
ENST00000640640.1:c.275+6495G>T	ENSP00000492246.1:n.275+6495G>T
ENST00000640916.1:n.203+6495G>T
ENST00000640957.1:c.275+6495G>T	ENSP00000492004.1:n.275+6495G>T
ENST00000264896.6:c.275+6495G>T	ENSP00000264896.2:n.275+6495G>T
ENST00000452464.6:c.275+6495G>T	ENSP00000399154.2:n.275+6495G>T
ENST00000502908.1:n.139+6495G>T
ENST00000509994.1:c.276-4432G>T	ENSP00000420988.1:n.276-4432G>T
NM_001204255.1:c.275+6495G>T	NP_001191184.1:n.275+6495G>T
NM_005506.3:c.275+6495G>T	NP_005497.1:n.275+6495G>T
NM_005506.4:c.275+6495G>T MANE Select	NP_005497.1:n.275+6495G>T
NM_001204255.2:c.275+6495G>T	NP_001191184.1:n.275+6495G>T