Canonical Allele Identifier: CA346671211

Gene: ABCG8

Linked Data

• dbSNP Id: rs1182088610
• gnomAD v4: 2-43877794-C-G
• MyVariant Identifiers: chr2:g.44104933C>G (hg19) ; chr2:g.43877794C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877794C>G , CM000664.2:g.43877794C>G	GRCh38
NC_000002.11:g.44104933C>G , CM000664.1:g.44104933C>G	GRCh37
NC_000002.10:g.43958437C>G	NCBI36
NG_008884.1:g.43831C>G
NG_008884.2:g.50853C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1903C>G MANE Select	ENSP00000272286.2:p.Leu635Val
ENST00000272286.2:c.1903C>G	ENSP00000272286.2:p.Leu635Val
NM_022437.2:c.1903C>G	NP_071882.1:p.Leu635Val
XM_005264483.2:c.1900C>G	XP_005264540.1:p.Leu634Val
XM_011533029.1:c.1915C>G	XP_011531331.1:p.Leu639Val
XM_011533030.1:c.1912C>G	XP_011531332.1:p.Leu638Val
XM_011533031.1:c.1687C>G	XP_011531333.1:p.Leu563Val
XR_939707.1:n.2405C>G
NM_001357321.1:c.1900C>G	NP_001344250.1:p.Leu634Val
XM_011533029.2:c.1915C>G	XP_011531331.1:p.Leu639Val
XM_011533030.2:c.1912C>G	XP_011531332.1:p.Leu638Val
XR_001738891.1:n.2419C>G
XR_939707.2:n.2419C>G
NM_022437.3:c.1903C>G MANE Select	NP_071882.1:p.Leu635Val
NM_001357321.2:c.1900C>G	NP_001344250.1:p.Leu634Val