Canonical Allele Identifier: CA399783032

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331957A>C (hg19) ; chr17:g.44254589A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254589A>C , CM000679.2:g.44254589A>C	GRCh38
NC_000017.10:g.42331957A>C , CM000679.1:g.42331957A>C	GRCh37
NC_000017.9:g.39687483A>C	NCBI36
NG_007498.1:g.18546T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1964T>G MANE Select	ENSP00000262418.6:p.Leu655Trp
ENST00000262418.10:c.1964T>G	ENSP00000262418.6:p.Leu655Trp
ENST00000399246.3:c.866T>G	ENSP00000382190.3:p.Leu289Trp
NM_000342.3:c.1964T>G	NP_000333.1:p.Leu655Trp
XM_005257593.3:c.1769T>G	XP_005257650.1:p.Leu590Trp
XM_011525129.1:c.1874T>G	XP_011523431.1:p.Leu625Trp
XM_011525130.1:c.1964T>G	XP_011523432.1:p.Leu655Trp
XM_011525131.1:c.1964T>G	XP_011523433.1:p.Leu655Trp
XM_005257593.5:c.1769T>G	XP_005257650.1:p.Leu590Trp
XM_011525129.2:c.1874T>G	XP_011523431.1:p.Leu625Trp
NM_000342.4:c.1964T>G MANE Select	NP_000333.1:p.Leu655Trp