Canonical Allele Identifier: CA346670638

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102506C>A (hg19) ; chr2:g.43875367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875367C>A , CM000664.2:g.43875367C>A	GRCh38
NC_000002.11:g.44102506C>A , CM000664.1:g.44102506C>A	GRCh37
NC_000002.10:g.43956010C>A	NCBI36
NG_008884.1:g.41404C>A
NG_008884.2:g.48426C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1710C>A MANE Select	ENSP00000272286.2:p.Phe570Leu
ENST00000272286.2:c.1710C>A	ENSP00000272286.2:p.Phe570Leu
NM_022437.2:c.1710C>A	NP_071882.1:p.Phe570Leu
XM_005264483.2:c.1707C>A	XP_005264540.1:p.Phe569Leu
XM_011533029.1:c.1722C>A	XP_011531331.1:p.Phe574Leu
XM_011533030.1:c.1719C>A	XP_011531332.1:p.Phe573Leu
XM_011533031.1:c.1494C>A	XP_011531333.1:p.Phe498Leu
XR_939707.1:n.2212C>A
NM_001357321.1:c.1707C>A	NP_001344250.1:p.Phe569Leu
XM_011533029.2:c.1722C>A	XP_011531331.1:p.Phe574Leu
XM_011533030.2:c.1719C>A	XP_011531332.1:p.Phe573Leu
XR_001738891.1:n.2226C>A
XR_939707.2:n.2226C>A
NM_022437.3:c.1710C>A MANE Select	NP_071882.1:p.Phe570Leu
NM_001357321.2:c.1707C>A	NP_001344250.1:p.Phe569Leu