Canonical Allele Identifier: CA1636855

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 595268
• ClinVar RCV Id: RCV000730773
• dbSNP Id: rs760005338
• ExAC: 2:44066227 C / T
• gnomAD v2: 2-44066227-C-T
• gnomAD v3: 2-43839088-C-T
• gnomAD v4: 2-43839088-C-T
• MyVariant Identifiers: chr2:g.44066227C>T (hg19) ; chr2:g.43839088C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839088C>T , CM000664.2:g.43839088C>T	GRCh38
NC_000002.11:g.44066227C>T , CM000664.1:g.44066227C>T	GRCh37
NC_000002.10:g.43919731C>T	NCBI36
NG_008883.1:g.4732G>A
NG_008884.1:g.5125C>T
NG_008884.2:g.12147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.35C>T MANE Select	ENSP00000272286.2:p.Pro12Leu
ENST00000643284.1:n.521-5419C>T
ENST00000644611.1:c.76-5419C>T	ENSP00000495423.1:n.76-5419C>T
ENST00000272286.2:c.35C>T	ENSP00000272286.2:p.Pro12Leu
NM_022437.2:c.35C>T	NP_071882.1:p.Pro12Leu
XM_005264483.2:c.35C>T	XP_005264540.1:p.Pro12Leu
XM_011533029.1:c.76-5419C>T	XP_011531331.1:n.76-5419C>T
XM_011533030.1:c.76-5419C>T	XP_011531332.1:n.76-5419C>T
XM_011533031.1:c.-153-5419C>T	XP_011531333.1:n.-153-5419C>T
XR_939707.1:n.566-5419C>T
NM_001357321.1:c.35C>T	NP_001344250.1:p.Pro12Leu
XM_011533029.2:c.76-5419C>T	XP_011531331.1:n.76-5419C>T
XM_011533030.2:c.76-5419C>T	XP_011531332.1:n.76-5419C>T
XR_001738891.1:n.580-5419C>T
XR_939707.2:n.580-5419C>T
NM_022437.3:c.35C>T MANE Select	NP_071882.1:p.Pro12Leu
NM_001357321.2:c.35C>T	NP_001344250.1:p.Pro12Leu