Canonical Allele Identifier: CA346671154

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877779-C-T
• MyVariant Identifiers: chr2:g.44104918C>T (hg19) ; chr2:g.43877779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877779C>T , CM000664.2:g.43877779C>T	GRCh38
NC_000002.11:g.44104918C>T , CM000664.1:g.44104918C>T	GRCh37
NC_000002.10:g.43958422C>T	NCBI36
NG_008884.1:g.43816C>T
NG_008884.2:g.50838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1888C>T MANE Select	ENSP00000272286.2:p.Leu630Phe
ENST00000272286.2:c.1888C>T	ENSP00000272286.2:p.Leu630Phe
NM_022437.2:c.1888C>T	NP_071882.1:p.Leu630Phe
XM_005264483.2:c.1885C>T	XP_005264540.1:p.Leu629Phe
XM_011533029.1:c.1900C>T	XP_011531331.1:p.Leu634Phe
XM_011533030.1:c.1897C>T	XP_011531332.1:p.Leu633Phe
XM_011533031.1:c.1672C>T	XP_011531333.1:p.Leu558Phe
XR_939707.1:n.2390C>T
NM_001357321.1:c.1885C>T	NP_001344250.1:p.Leu629Phe
XM_011533029.2:c.1900C>T	XP_011531331.1:p.Leu634Phe
XM_011533030.2:c.1897C>T	XP_011531332.1:p.Leu633Phe
XR_001738891.1:n.2404C>T
XR_939707.2:n.2404C>T
NM_022437.3:c.1888C>T MANE Select	NP_071882.1:p.Leu630Phe
NM_001357321.2:c.1885C>T	NP_001344250.1:p.Leu629Phe