Canonical Allele Identifier: CA346671269

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877809-C-T
• MyVariant Identifiers: chr2:g.44104948C>T (hg19) ; chr2:g.43877809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877809C>T , CM000664.2:g.43877809C>T	GRCh38
NC_000002.11:g.44104948C>T , CM000664.1:g.44104948C>T	GRCh37
NC_000002.10:g.43958452C>T	NCBI36
NG_008884.1:g.43846C>T
NG_008884.2:g.50868C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1918C>T MANE Select	ENSP00000272286.2:p.Leu640Phe
ENST00000272286.2:c.1918C>T	ENSP00000272286.2:p.Leu640Phe
NM_022437.2:c.1918C>T	NP_071882.1:p.Leu640Phe
XM_005264483.2:c.1915C>T	XP_005264540.1:p.Leu639Phe
XM_011533029.1:c.1930C>T	XP_011531331.1:p.Leu644Phe
XM_011533030.1:c.1927C>T	XP_011531332.1:p.Leu643Phe
XM_011533031.1:c.1702C>T	XP_011531333.1:p.Leu568Phe
XR_939707.1:n.2420C>T
NM_001357321.1:c.1915C>T	NP_001344250.1:p.Leu639Phe
XM_011533029.2:c.1930C>T	XP_011531331.1:p.Leu644Phe
XM_011533030.2:c.1927C>T	XP_011531332.1:p.Leu643Phe
XR_001738891.1:n.2434C>T
XR_939707.2:n.2434C>T
NM_022437.3:c.1918C>T MANE Select	NP_071882.1:p.Leu640Phe
NM_001357321.2:c.1915C>T	NP_001344250.1:p.Leu639Phe