Canonical Allele Identifier: CA10615481

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336086
• ClinVar RCV Id: RCV000367511
• dbSNP Id: rs886056036
• gnomAD v2: 2-44102471-G-T
• gnomAD v4: 2-43875332-G-T
• MyVariant Identifiers: chr2:g.44102471G>T (hg19) ; chr2:g.43875332G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875332G>T , CM000664.2:g.43875332G>T	GRCh38
NC_000002.11:g.44102471G>T , CM000664.1:g.44102471G>T	GRCh37
NC_000002.10:g.43955975G>T	NCBI36
NG_008884.1:g.41369G>T
NG_008884.2:g.48391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1675G>T MANE Select	ENSP00000272286.2:p.Ala559Ser
ENST00000272286.2:c.1675G>T	ENSP00000272286.2:p.Ala559Ser
NM_022437.2:c.1675G>T	NP_071882.1:p.Ala559Ser
XM_005264483.2:c.1672G>T	XP_005264540.1:p.Ala558Ser
XM_011533029.1:c.1687G>T	XP_011531331.1:p.Ala563Ser
XM_011533030.1:c.1684G>T	XP_011531332.1:p.Ala562Ser
XM_011533031.1:c.1459G>T	XP_011531333.1:p.Ala487Ser
XR_939707.1:n.2177G>T
NM_001357321.1:c.1672G>T	NP_001344250.1:p.Ala558Ser
XM_011533029.2:c.1687G>T	XP_011531331.1:p.Ala563Ser
XM_011533030.2:c.1684G>T	XP_011531332.1:p.Ala562Ser
XR_001738891.1:n.2191G>T
XR_939707.2:n.2191G>T
NM_022437.3:c.1675G>T MANE Select	NP_071882.1:p.Ala559Ser
NM_001357321.2:c.1672G>T	NP_001344250.1:p.Ala558Ser