Canonical Allele Identifier: CA399782796

Gene: SLC4A1

Linked Data

• ClinVar Variation Id: 2692000
• ClinVar RCV Id: RCV003494197
• MyVariant Identifiers: chr17:g.42331935C>A (hg19) ; chr17:g.44254567C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254567C>A , CM000679.2:g.44254567C>A	GRCh38
NC_000017.10:g.42331935C>A , CM000679.1:g.42331935C>A	GRCh37
NC_000017.9:g.39687461C>A	NCBI36
NG_007498.1:g.18568G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1986G>T MANE Select	ENSP00000262418.6:p.Trp662Cys
ENST00000262418.10:c.1986G>T	ENSP00000262418.6:p.Trp662Cys
ENST00000399246.3:c.888G>T	ENSP00000382190.3:p.Trp296Cys
NM_000342.3:c.1986G>T	NP_000333.1:p.Trp662Cys
XM_005257593.3:c.1791G>T	XP_005257650.1:p.Trp597Cys
XM_011525129.1:c.1896G>T	XP_011523431.1:p.Trp632Cys
XM_011525130.1:c.1986G>T	XP_011523432.1:p.Trp662Cys
XM_011525131.1:c.1986G>T	XP_011523433.1:p.Trp662Cys
XM_005257593.5:c.1791G>T	XP_005257650.1:p.Trp597Cys
XM_011525129.2:c.1896G>T	XP_011523431.1:p.Trp632Cys
NM_000342.4:c.1986G>T MANE Select	NP_000333.1:p.Trp662Cys