Canonical Allele Identifier: CA346670962

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877661-C-A
• MyVariant Identifiers: chr2:g.44104800C>A (hg19) ; chr2:g.43877661C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877661C>A , CM000664.2:g.43877661C>A	GRCh38
NC_000002.11:g.44104800C>A , CM000664.1:g.44104800C>A	GRCh37
NC_000002.10:g.43958304C>A	NCBI36
NG_008884.1:g.43698C>A
NG_008884.2:g.50720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1857C>A MANE Select	ENSP00000272286.2:p.Asn619Lys
ENST00000272286.2:c.1857C>A	ENSP00000272286.2:p.Asn619Lys
NM_022437.2:c.1857C>A	NP_071882.1:p.Asn619Lys
XM_005264483.2:c.1854C>A	XP_005264540.1:p.Asn618Lys
XM_011533029.1:c.1869C>A	XP_011531331.1:p.Asn623Lys
XM_011533030.1:c.1866C>A	XP_011531332.1:p.Asn622Lys
XM_011533031.1:c.1641C>A	XP_011531333.1:p.Asn547Lys
XR_939707.1:n.2359C>A
NM_001357321.1:c.1854C>A	NP_001344250.1:p.Asn618Lys
XM_011533029.2:c.1869C>A	XP_011531331.1:p.Asn623Lys
XM_011533030.2:c.1866C>A	XP_011531332.1:p.Asn622Lys
XR_001738891.1:n.2373C>A
XR_939707.2:n.2373C>A
NM_022437.3:c.1857C>A MANE Select	NP_071882.1:p.Asn619Lys
NM_001357321.2:c.1854C>A	NP_001344250.1:p.Asn618Lys