Canonical Allele Identifier: CA346663712

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 1803923
• ClinVar RCV Id: RCV002468548
• gnomAD v4: 2-43846309-C-T
• MyVariant Identifiers: chr2:g.44073448C>T (hg19) ; chr2:g.43846309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846309C>T , CM000664.2:g.43846309C>T	GRCh38
NC_000002.11:g.44073448C>T , CM000664.1:g.44073448C>T	GRCh37
NC_000002.10:g.43926952C>T	NCBI36
NG_008884.1:g.12346C>T
NG_008884.2:g.19368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.320C>T MANE Select	ENSP00000272286.2:p.Ser107Leu
ENST00000643284.1:n.777C>T
ENST00000644611.1:c.332C>T	ENSP00000495423.1:p.Ser111Leu
ENST00000272286.2:c.320C>T	ENSP00000272286.2:p.Ser107Leu
NM_022437.2:c.320C>T	NP_071882.1:p.Ser107Leu
XM_005264483.2:c.320C>T	XP_005264540.1:p.Ser107Leu
XM_011533029.1:c.332C>T	XP_011531331.1:p.Ser111Leu
XM_011533030.1:c.332C>T	XP_011531332.1:p.Ser111Leu
XM_011533031.1:c.104C>T	XP_011531333.1:p.Ser35Leu
XR_939707.1:n.822C>T
NM_001357321.1:c.320C>T	NP_001344250.1:p.Ser107Leu
XM_011533029.2:c.332C>T	XP_011531331.1:p.Ser111Leu
XM_011533030.2:c.332C>T	XP_011531332.1:p.Ser111Leu
XR_001738891.1:n.836C>T
XR_939707.2:n.836C>T
NM_022437.3:c.320C>T MANE Select	NP_071882.1:p.Ser107Leu
NM_001357321.2:c.320C>T	NP_001344250.1:p.Ser107Leu