Canonical Allele Identifier: CA346670656

Gene: ABCG8

Linked Data

• dbSNP Id: rs1669927501
• gnomAD v4: 2-43875375-C-T
• MyVariant Identifiers: chr2:g.44102514C>T (hg19) ; chr2:g.43875375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875375C>T , CM000664.2:g.43875375C>T	GRCh38
NC_000002.11:g.44102514C>T , CM000664.1:g.44102514C>T	GRCh37
NC_000002.10:g.43956018C>T	NCBI36
NG_008884.1:g.41412C>T
NG_008884.2:g.48434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1718C>T MANE Select	ENSP00000272286.2:p.Ala573Val
ENST00000272286.2:c.1718C>T	ENSP00000272286.2:p.Ala573Val
NM_022437.2:c.1718C>T	NP_071882.1:p.Ala573Val
XM_005264483.2:c.1715C>T	XP_005264540.1:p.Ala572Val
XM_011533029.1:c.1730C>T	XP_011531331.1:p.Ala577Val
XM_011533030.1:c.1727C>T	XP_011531332.1:p.Ala576Val
XM_011533031.1:c.1502C>T	XP_011531333.1:p.Ala501Val
XR_939707.1:n.2220C>T
NM_001357321.1:c.1715C>T	NP_001344250.1:p.Ala572Val
XM_011533029.2:c.1730C>T	XP_011531331.1:p.Ala577Val
XM_011533030.2:c.1727C>T	XP_011531332.1:p.Ala576Val
XR_001738891.1:n.2234C>T
XR_939707.2:n.2234C>T
NM_022437.3:c.1718C>T MANE Select	NP_071882.1:p.Ala573Val
NM_001357321.2:c.1715C>T	NP_001344250.1:p.Ala572Val