Canonical Allele Identifier: CA46435048

Gene: ABCG8

Linked Data

• dbSNP Id: rs144680109
• gnomAD v3: 2-43846615-A-T
• gnomAD v4: 2-43846615-A-T
• MyVariant Identifiers: chr2:g.44073754A>T (hg19) ; chr2:g.43846615A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846615A>T , CM000664.2:g.43846615A>T	GRCh38
NC_000002.11:g.44073754A>T , CM000664.1:g.44073754A>T	GRCh37
NC_000002.10:g.43927258A>T	NCBI36
NG_008884.1:g.12652A>T
NG_008884.2:g.19674A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.322+304A>T MANE Select	ENSP00000272286.2:n.322+304A>T
ENST00000643284.1:n.1083A>T
ENST00000644611.1:c.334+304A>T	ENSP00000495423.1:n.334+304A>T
ENST00000272286.2:c.322+304A>T	ENSP00000272286.2:n.322+304A>T
NM_022437.2:c.322+304A>T	NP_071882.1:n.322+304A>T
XM_005264483.2:c.322+304A>T	XP_005264540.1:n.322+304A>T
XM_011533029.1:c.334+304A>T	XP_011531331.1:n.334+304A>T
XM_011533030.1:c.334+304A>T	XP_011531332.1:n.334+304A>T
XM_011533031.1:c.106+304A>T	XP_011531333.1:n.106+304A>T
XR_939707.1:n.824+304A>T
NM_001357321.1:c.322+304A>T	NP_001344250.1:n.322+304A>T
XM_011533029.2:c.334+304A>T	XP_011531331.1:n.334+304A>T
XM_011533030.2:c.334+304A>T	XP_011531332.1:n.334+304A>T
XR_001738891.1:n.838+304A>T
XR_939707.2:n.838+304A>T
NM_022437.3:c.322+304A>T MANE Select	NP_071882.1:n.322+304A>T
NM_001357321.2:c.322+304A>T	NP_001344250.1:n.322+304A>T