Canonical Allele Identifier: CA346670878

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877623-C-A
• MyVariant Identifiers: chr2:g.44104762C>A (hg19) ; chr2:g.43877623C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877623C>A , CM000664.2:g.43877623C>A	GRCh38
NC_000002.11:g.44104762C>A , CM000664.1:g.44104762C>A	GRCh37
NC_000002.10:g.43958266C>A	NCBI36
NG_008884.1:g.43660C>A
NG_008884.2:g.50682C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1819C>A MANE Select	ENSP00000272286.2:p.Gln607Lys
ENST00000272286.2:c.1819C>A	ENSP00000272286.2:p.Gln607Lys
NM_022437.2:c.1819C>A	NP_071882.1:p.Gln607Lys
XM_005264483.2:c.1816C>A	XP_005264540.1:p.Gln606Lys
XM_011533029.1:c.1831C>A	XP_011531331.1:p.Gln611Lys
XM_011533030.1:c.1828C>A	XP_011531332.1:p.Gln610Lys
XM_011533031.1:c.1603C>A	XP_011531333.1:p.Gln535Lys
XR_939707.1:n.2321C>A
NM_001357321.1:c.1816C>A	NP_001344250.1:p.Gln606Lys
XM_011533029.2:c.1831C>A	XP_011531331.1:p.Gln611Lys
XM_011533030.2:c.1828C>A	XP_011531332.1:p.Gln610Lys
XR_001738891.1:n.2335C>A
XR_939707.2:n.2335C>A
NM_022437.3:c.1819C>A MANE Select	NP_071882.1:p.Gln607Lys
NM_001357321.2:c.1816C>A	NP_001344250.1:p.Gln606Lys