Canonical Allele Identifier: CA10613378

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336095
• ClinVar RCV Id: RCV000406129
• dbSNP Id: rs886056038
• gnomAD v4: 2-43878119-C-T
• MyVariant Identifiers: chr2:g.44105258C>T (hg19) ; chr2:g.43878119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43878119C>T , CM000664.2:g.43878119C>T	GRCh38
NC_000002.11:g.44105258C>T , CM000664.1:g.44105258C>T	GRCh37
NC_000002.10:g.43958762C>T	NCBI36
NG_008884.1:g.44156C>T
NG_008884.2:g.51178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.*206C>T MANE Select	ENSP00000272286.2:n.*206C>T
ENST00000272286.2:c.*206C>T	ENSP00000272286.2:n.*206C>T
NM_022437.2:c.*206C>T	NP_071882.1:n.*206C>T
XM_005264483.2:c.*206C>T	XP_005264540.1:n.*206C>T
XM_011533029.1:c.*206C>T	XP_011531331.1:n.*206C>T
XM_011533030.1:c.*206C>T	XP_011531332.1:n.*206C>T
XM_011533031.1:c.*206C>T	XP_011531333.1:n.*206C>T
XR_939707.1:n.2730C>T
NM_001357321.1:c.*206C>T	NP_001344250.1:n.*206C>T
XM_011533029.2:c.*206C>T	XP_011531331.1:n.*206C>T
XM_011533030.2:c.*206C>T	XP_011531332.1:n.*206C>T
XR_001738891.1:n.2744C>T
XR_939707.2:n.2744C>T
NM_022437.3:c.*206C>T MANE Select	NP_071882.1:n.*206C>T
NM_001357321.2:c.*206C>T	NP_001344250.1:n.*206C>T