Canonical Allele Identifier: CA46427140

Gene: ABCG8

Linked Data

• dbSNP Id: rs867776609
• gnomAD v2: 2-44066428-A-T
• gnomAD v3: 2-43839289-A-T
• gnomAD v4: 2-43839289-A-T
• MyVariant Identifiers: chr2:g.44066428A>T (hg19) ; chr2:g.43839289A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839289A>T , CM000664.2:g.43839289A>T	GRCh38
NC_000002.11:g.44066428A>T , CM000664.1:g.44066428A>T	GRCh37
NC_000002.10:g.43919932A>T	NCBI36
NG_008883.1:g.4531T>A
NG_008884.1:g.5326A>T
NG_008884.2:g.12348A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.63+173A>T MANE Select	ENSP00000272286.2:n.63+173A>T
ENST00000643284.1:n.521-5218A>T
ENST00000644611.1:c.76-5218A>T	ENSP00000495423.1:n.76-5218A>T
ENST00000272286.2:c.63+173A>T	ENSP00000272286.2:n.63+173A>T
NM_022437.2:c.63+173A>T	NP_071882.1:n.63+173A>T
XM_005264483.2:c.63+173A>T	XP_005264540.1:n.63+173A>T
XM_011533029.1:c.76-5218A>T	XP_011531331.1:n.76-5218A>T
XM_011533030.1:c.76-5218A>T	XP_011531332.1:n.76-5218A>T
XM_011533031.1:c.-153-5218A>T	XP_011531333.1:n.-153-5218A>T
XR_939707.1:n.566-5218A>T
NM_001357321.1:c.63+173A>T	NP_001344250.1:n.63+173A>T
XM_011533029.2:c.76-5218A>T	XP_011531331.1:n.76-5218A>T
XM_011533030.2:c.76-5218A>T	XP_011531332.1:n.76-5218A>T
XR_001738891.1:n.580-5218A>T
XR_939707.2:n.580-5218A>T
NM_022437.3:c.63+173A>T MANE Select	NP_071882.1:n.63+173A>T
NM_001357321.2:c.63+173A>T	NP_001344250.1:n.63+173A>T