Canonical Allele Identifier: CA399783252

Gene: SLC4A1

Linked Data

• gnomAD v4: 17-44254610-C-G
• MyVariant Identifiers: chr17:g.42331978C>G (hg19) ; chr17:g.44254610C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262418.12:c.1943G>C MANE Select	ENSP00000262418.6:p.Trp648Ser
ENST00000262418.10:c.1943G>C	ENSP00000262418.6:p.Trp648Ser
ENST00000399246.3:c.845G>C	ENSP00000382190.3:p.Trp282Ser
NM_000342.3:c.1943G>C	NP_000333.1:p.Trp648Ser
XM_005257593.3:c.1748G>C	XP_005257650.1:p.Trp583Ser
XM_011525129.1:c.1853G>C	XP_011523431.1:p.Trp618Ser
XM_011525130.1:c.1943G>C	XP_011523432.1:p.Trp648Ser
XM_011525131.1:c.1943G>C	XP_011523433.1:p.Trp648Ser
XM_005257593.5:c.1748G>C	XP_005257650.1:p.Trp583Ser
XM_011525129.2:c.1853G>C	XP_011523431.1:p.Trp618Ser
NM_000342.4:c.1943G>C MANE Select	NP_000333.1:p.Trp648Ser