Canonical Allele Identifier: CA46435032

Gene: ABCG8

Linked Data

• dbSNP Id: rs149342984
• gnomAD v2: 2-44073728-C-T
• gnomAD v3: 2-43846589-C-T
• gnomAD v4: 2-43846589-C-T
• MyVariant Identifiers: chr2:g.44073728C>T (hg19) ; chr2:g.43846589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846589C>T , CM000664.2:g.43846589C>T	GRCh38
NC_000002.11:g.44073728C>T , CM000664.1:g.44073728C>T	GRCh37
NC_000002.10:g.43927232C>T	NCBI36
NG_008884.1:g.12626C>T
NG_008884.2:g.19648C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.322+278C>T MANE Select	ENSP00000272286.2:n.322+278C>T
ENST00000643284.1:n.1057C>T
ENST00000644611.1:c.334+278C>T	ENSP00000495423.1:n.334+278C>T
ENST00000272286.2:c.322+278C>T	ENSP00000272286.2:n.322+278C>T
NM_022437.2:c.322+278C>T	NP_071882.1:n.322+278C>T
XM_005264483.2:c.322+278C>T	XP_005264540.1:n.322+278C>T
XM_011533029.1:c.334+278C>T	XP_011531331.1:n.334+278C>T
XM_011533030.1:c.334+278C>T	XP_011531332.1:n.334+278C>T
XM_011533031.1:c.106+278C>T	XP_011531333.1:n.106+278C>T
XR_939707.1:n.824+278C>T
NM_001357321.1:c.322+278C>T	NP_001344250.1:n.322+278C>T
XM_011533029.2:c.334+278C>T	XP_011531331.1:n.334+278C>T
XM_011533030.2:c.334+278C>T	XP_011531332.1:n.334+278C>T
XR_001738891.1:n.838+278C>T
XR_939707.2:n.838+278C>T
NM_022437.3:c.322+278C>T MANE Select	NP_071882.1:n.322+278C>T
NM_001357321.2:c.322+278C>T	NP_001344250.1:n.322+278C>T