Canonical Allele Identifier: CA10615248

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336094
• ClinVar RCV Id: RCV000336457
• dbSNP Id: rs886056037
• gnomAD v4: 2-43878054-T-G
• MyVariant Identifiers: chr2:g.44105193T>G (hg19) ; chr2:g.43878054T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878054T>G , CM000664.2:g.43878054T>G	GRCh38
NC_000002.11:g.44105193T>G , CM000664.1:g.44105193T>G	GRCh37
NC_000002.10:g.43958697T>G	NCBI36
NG_008884.1:g.44091T>G
NG_008884.2:g.51113T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*141T>G MANE Select	ENSP00000272286.2:n.*141T>G
ENST00000272286.2:c.*141T>G	ENSP00000272286.2:n.*141T>G
NM_022437.2:c.*141T>G	NP_071882.1:n.*141T>G
XM_005264483.2:c.*141T>G	XP_005264540.1:n.*141T>G
XM_011533029.1:c.*141T>G	XP_011531331.1:n.*141T>G
XM_011533030.1:c.*141T>G	XP_011531332.1:n.*141T>G
XM_011533031.1:c.*141T>G	XP_011531333.1:n.*141T>G
XR_939707.1:n.2665T>G
NM_001357321.1:c.*141T>G	NP_001344250.1:n.*141T>G
XM_011533029.2:c.*141T>G	XP_011531331.1:n.*141T>G
XM_011533030.2:c.*141T>G	XP_011531332.1:n.*141T>G
XR_001738891.1:n.2679T>G
XR_939707.2:n.2679T>G
NM_022437.3:c.*141T>G MANE Select	NP_071882.1:n.*141T>G
NM_001357321.2:c.*141T>G	NP_001344250.1:n.*141T>G