Canonical Allele Identifier: CA1636990

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336068
• ClinVar RCV Id: RCV000271754 ; RCV000729735 ; RCV002450907 ; RCV003932335
• dbSNP Id: rs150970273
• ExAC: 2:44078742 G / A
• gnomAD v2: 2-44078742-G-A
• gnomAD v3: 2-43851603-G-A
• gnomAD v4: 2-43851603-G-A
• MyVariant Identifiers: chr2:g.44078742G>A (hg19) ; chr2:g.43851603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43851603G>A , CM000664.2:g.43851603G>A	GRCh38
NC_000002.11:g.44078742G>A , CM000664.1:g.44078742G>A	GRCh37
NC_000002.10:g.43932246G>A	NCBI36
NG_008884.1:g.17640G>A
NG_008884.2:g.24662G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.342G>A MANE Select	ENSP00000272286.2:p.Leu114=
ENST00000644611.1:c.354G>A	ENSP00000495423.1:p.Leu118=
ENST00000272286.2:c.342G>A	ENSP00000272286.2:p.Leu114=
NM_022437.2:c.342G>A	NP_071882.1:p.Leu114=
XM_005264483.2:c.342G>A	XP_005264540.1:p.Leu114=
XM_011533029.1:c.354G>A	XP_011531331.1:p.Leu118=
XM_011533030.1:c.354G>A	XP_011531332.1:p.Leu118=
XM_011533031.1:c.126G>A	XP_011531333.1:p.Leu42=
XR_939707.1:n.844G>A
NM_001357321.1:c.342G>A	NP_001344250.1:p.Leu114=
XM_011533029.2:c.354G>A	XP_011531331.1:p.Leu118=
XM_011533030.2:c.354G>A	XP_011531332.1:p.Leu118=
XR_001738891.1:n.858G>A
XR_939707.2:n.858G>A
NM_022437.3:c.342G>A MANE Select	NP_071882.1:p.Leu114=
NM_001357321.2:c.342G>A	NP_001344250.1:p.Leu114=