Canonical Allele Identifier: CA1636951

Gene: ABCG8

Linked Data

• dbSNP Id: rs141696243
• ExAC: 2:44073393 C / A
• gnomAD v2: 2-44073393-C-A
• gnomAD v4: 2-43846254-C-A
• MyVariant Identifiers: chr2:g.44073393C>A (hg19) ; chr2:g.43846254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846254C>A , CM000664.2:g.43846254C>A	GRCh38
NC_000002.11:g.44073393C>A , CM000664.1:g.44073393C>A	GRCh37
NC_000002.10:g.43926897C>A	NCBI36
NG_008884.1:g.12291C>A
NG_008884.2:g.19313C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.265C>A MANE Select	ENSP00000272286.2:p.Gln89Lys
ENST00000643284.1:n.722C>A
ENST00000644611.1:c.277C>A	ENSP00000495423.1:p.Gln93Lys
ENST00000272286.2:c.265C>A	ENSP00000272286.2:p.Gln89Lys
NM_022437.2:c.265C>A	NP_071882.1:p.Gln89Lys
XM_005264483.2:c.265C>A	XP_005264540.1:p.Gln89Lys
XM_011533029.1:c.277C>A	XP_011531331.1:p.Gln93Lys
XM_011533030.1:c.277C>A	XP_011531332.1:p.Gln93Lys
XM_011533031.1:c.49C>A	XP_011531333.1:p.Gln17Lys
XR_939707.1:n.767C>A
NM_001357321.1:c.265C>A	NP_001344250.1:p.Gln89Lys
XM_011533029.2:c.277C>A	XP_011531331.1:p.Gln93Lys
XM_011533030.2:c.277C>A	XP_011531332.1:p.Gln93Lys
XR_001738891.1:n.781C>A
XR_939707.2:n.781C>A
NM_022437.3:c.265C>A MANE Select	NP_071882.1:p.Gln89Lys
NM_001357321.2:c.265C>A	NP_001344250.1:p.Gln89Lys