Canonical Allele Identifier: CA46474713

Gene: ABCG8

Linked Data

• dbSNP Id: rs568732429
• gnomAD v2: 2-44104946-C-T
• gnomAD v4: 2-43877807-C-T
• MyVariant Identifiers: chr2:g.44104946C>T (hg19) ; chr2:g.43877807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877807C>T , CM000664.2:g.43877807C>T	GRCh38
NC_000002.11:g.44104946C>T , CM000664.1:g.44104946C>T	GRCh37
NC_000002.10:g.43958450C>T	NCBI36
NG_008884.1:g.43844C>T
NG_008884.2:g.50866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1916C>T MANE Select	ENSP00000272286.2:p.Pro639Leu
ENST00000272286.2:c.1916C>T	ENSP00000272286.2:p.Pro639Leu
NM_022437.2:c.1916C>T	NP_071882.1:p.Pro639Leu
XM_005264483.2:c.1913C>T	XP_005264540.1:p.Pro638Leu
XM_011533029.1:c.1928C>T	XP_011531331.1:p.Pro643Leu
XM_011533030.1:c.1925C>T	XP_011531332.1:p.Pro642Leu
XM_011533031.1:c.1700C>T	XP_011531333.1:p.Pro567Leu
XR_939707.1:n.2418C>T
NM_001357321.1:c.1913C>T	NP_001344250.1:p.Pro638Leu
XM_011533029.2:c.1928C>T	XP_011531331.1:p.Pro643Leu
XM_011533030.2:c.1925C>T	XP_011531332.1:p.Pro642Leu
XR_001738891.1:n.2432C>T
XR_939707.2:n.2432C>T
NM_022437.3:c.1916C>T MANE Select	NP_071882.1:p.Pro639Leu
NM_001357321.2:c.1913C>T	NP_001344250.1:p.Pro638Leu