Canonical Allele Identifier: CA346663537

Gene: ABCG8

Linked Data

• dbSNP Id: rs1404566164
• gnomAD v3: 2-43846230-C-T
• gnomAD v4: 2-43846230-C-T
• MyVariant Identifiers: chr2:g.44073369C>T (hg19) ; chr2:g.43846230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846230C>T , CM000664.2:g.43846230C>T	GRCh38
NC_000002.11:g.44073369C>T , CM000664.1:g.44073369C>T	GRCh37
NC_000002.10:g.43926873C>T	NCBI36
NG_008884.1:g.12267C>T
NG_008884.2:g.19289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.241C>T MANE Select	ENSP00000272286.2:p.Gln81Ter
ENST00000643284.1:n.698C>T
ENST00000644611.1:c.253C>T	ENSP00000495423.1:p.Gln85Ter
ENST00000272286.2:c.241C>T	ENSP00000272286.2:p.Gln81Ter
NM_022437.2:c.241C>T	NP_071882.1:p.Gln81Ter
XM_005264483.2:c.241C>T	XP_005264540.1:p.Gln81Ter
XM_011533029.1:c.253C>T	XP_011531331.1:p.Gln85Ter
XM_011533030.1:c.253C>T	XP_011531332.1:p.Gln85Ter
XM_011533031.1:c.25C>T	XP_011531333.1:p.Gln9Ter
XR_939707.1:n.743C>T
NM_001357321.1:c.241C>T	NP_001344250.1:p.Gln81Ter
XM_011533029.2:c.253C>T	XP_011531331.1:p.Gln85Ter
XM_011533030.2:c.253C>T	XP_011531332.1:p.Gln85Ter
XR_001738891.1:n.757C>T
XR_939707.2:n.757C>T
NM_022437.3:c.241C>T MANE Select	NP_071882.1:p.Gln81Ter
NM_001357321.2:c.241C>T	NP_001344250.1:p.Gln81Ter