Canonical Allele Identifier: CA399783249

Gene: SLC4A1

Linked Data

• MyVariant Identifiers: chr17:g.42331978C>A (hg19) ; chr17:g.44254610C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44254610C>A , CM000679.2:g.44254610C>A	GRCh38
NC_000017.10:g.42331978C>A , CM000679.1:g.42331978C>A	GRCh37
NC_000017.9:g.39687504C>A	NCBI36
NG_007498.1:g.18525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1943G>T MANE Select	ENSP00000262418.6:p.Trp648Leu
ENST00000262418.10:c.1943G>T	ENSP00000262418.6:p.Trp648Leu
ENST00000399246.3:c.845G>T	ENSP00000382190.3:p.Trp282Leu
NM_000342.3:c.1943G>T	NP_000333.1:p.Trp648Leu
XM_005257593.3:c.1748G>T	XP_005257650.1:p.Trp583Leu
XM_011525129.1:c.1853G>T	XP_011523431.1:p.Trp618Leu
XM_011525130.1:c.1943G>T	XP_011523432.1:p.Trp648Leu
XM_011525131.1:c.1943G>T	XP_011523433.1:p.Trp648Leu
XM_005257593.5:c.1748G>T	XP_005257650.1:p.Trp583Leu
XM_011525129.2:c.1853G>T	XP_011523431.1:p.Trp618Leu
NM_000342.4:c.1943G>T MANE Select	NP_000333.1:p.Trp648Leu